Name: rs17822931
Published: September 3, 2024
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs17822931

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr16:48224287 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.132039 (48006/363574, ALFA)
T=0.129756 (34345/264690, TOPMED)
T=0.140760 (20998/149176, GnomAD_genomes) (+ 24 more)
T=0.225107 (27269/121138, ExAC)
T=0.18443 (14514/78696, PAGE_STUDY)
C=0.12736 (9863/77444, 38KJPN)
C=0.0141 (102/7232, Korea4K)
T=0.2842 (1820/6404, 1000G_30X)
T=0.3009 (1507/5008, 1000G)
T=0.1871 (838/4480, Estonian)
T=0.1313 (506/3854, ALSPAC)
T=0.1230 (456/3708, TWINSUK)
C=0.0116 (34/2930, KOREAN)
T=0.2925 (520/1778, HapMap)
T=0.1890 (214/1132, Daghestan)
T=0.134 (134/998, GoNL)
C=0.048 (38/792, PRJEB37584)
C=0.319 (195/611, Vietnamese)
T=0.227 (136/600, NorthernSweden)
T=0.103 (55/534, MGP)
T=0.447 (160/358, PharmGKB)
T=0.237 (72/304, FINRISK)
C=0.288 (76/264, SGDP_PRJ)
T=0.134 (29/216, Qatari)
T=0.17 (7/40, GENOME_DK)
C=0.25 (9/36, Siberian)
T=0.00 (0/16, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ABCC11 : Missense Variant
Publications: 27 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	363574	C=0.867961	T=0.132039	0.761952	0.02603	0.212017	32
European	Sub	311314	C=0.877269	T=0.122731	0.769789	0.015251	0.21496	0
African	Sub	16556	C=0.96865	T=0.03135	0.938512	0.001208	0.06028	0
African Others	Sub	594	C=0.995	T=0.005	0.989899	0.0	0.010101	0
African American	Sub	15962	C=0.96767	T=0.03233	0.936599	0.001253	0.062148	0
Asian	Sub	3982	C=0.1675	T=0.8325	0.091411	0.756404	0.152185	32
East Asian	Sub	3180	C=0.0547	T=0.9453	0.007547	0.898113	0.09434	7
Other Asian	Sub	802	C=0.615	T=0.385	0.42394	0.194514	0.381546	9
Latin American 1	Sub	1426	C=0.9060	T=0.0940	0.819074	0.007013	0.173913	0
Latin American 2	Sub	3176	C=0.8196	T=0.1804	0.673174	0.034005	0.292821	0
South Asian	Sub	5226	C=0.6033	T=0.3967	0.370073	0.163414	0.466514	1
Other	Sub	21894	C=0.85457	T=0.14543	0.741664	0.03252	0.225815	32

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	363574	C=0.867961	T=0.132039
Allele Frequency Aggregator	European	Sub	311314	C=0.877269	T=0.122731
Allele Frequency Aggregator	Other	Sub	21894	C=0.85457	T=0.14543
Allele Frequency Aggregator	African	Sub	16556	C=0.96865	T=0.03135
Allele Frequency Aggregator	South Asian	Sub	5226	C=0.6033	T=0.3967
Allele Frequency Aggregator	Asian	Sub	3982	C=0.1675	T=0.8325
Allele Frequency Aggregator	Latin American 2	Sub	3176	C=0.8196	T=0.1804
Allele Frequency Aggregator	Latin American 1	Sub	1426	C=0.9060	T=0.0940
TopMed	Global	Study-wide	264690	C=0.870244	T=0.129756
gnomAD v4 - Genomes	Global	Study-wide	149176	C=0.859240	T=0.140760
gnomAD v4 - Genomes	European	Sub	78586	C=0.85642	T=0.14358
gnomAD v4 - Genomes	African	Sub	41536	C=0.97152	T=0.02848
gnomAD v4 - Genomes	American	Sub	15288	C=0.88749	T=0.11251
gnomAD v4 - Genomes	East Asian	Sub	5174	C=0.1612	T=0.8388
gnomAD v4 - Genomes	South Asian	Sub	4826	C=0.5738	T=0.4262
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3472	C=0.8868	T=0.1132
gnomAD v4 - Genomes	Middle Eastern	sub	294	C=0.925	T=0.075
ExAC	Global	Study-wide	121138	C=0.774893	T=0.225107
ExAC	Europe	Sub	73218	C=0.85777	T=0.14223
ExAC	Asian	Sub	25060	C=0.42706	T=0.57294
ExAC	American	Sub	11562	C=0.82641	T=0.17359
ExAC	African	Sub	10390	C=0.97093	T=0.02907
ExAC	Other	Sub	908	C=0.793	T=0.207
The PAGE Study	Global	Study-wide	78696	C=0.81557	T=0.18443
The PAGE Study	AfricanAmerican	Sub	32512	C=0.96531	T=0.03469
The PAGE Study	Mexican	Sub	10810	C=0.83589	T=0.16411
The PAGE Study	Asian	Sub	8318	C=0.1661	T=0.8339
The PAGE Study	PuertoRican	Sub	7916	C=0.9053	T=0.0947
The PAGE Study	NativeHawaiian	Sub	4534	C=0.5765	T=0.4235
The PAGE Study	Cuban	Sub	4230	C=0.8922	T=0.1078
The PAGE Study	Dominican	Sub	3828	C=0.9224	T=0.0776
The PAGE Study	CentralAmerican	Sub	2450	C=0.9016	T=0.0984
The PAGE Study	SouthAmerican	Sub	1982	C=0.8058	T=0.1942
The PAGE Study	NativeAmerican	Sub	1260	C=0.8087	T=0.1913
The PAGE Study	SouthAsian	Sub	856	C=0.549	T=0.451
38KJPN	JAPANESE	Study-wide	77444	C=0.12736	T=0.87264
Korean Genome Project 4K	KOREAN	Study-wide	7232	C=0.0141	T=0.9859
1000Genomes_30X	Global	Study-wide	6404	C=0.7158	T=0.2842
1000Genomes_30X	African	Sub	1786	C=0.9877	T=0.0123
1000Genomes_30X	Europe	Sub	1266	C=0.8681	T=0.1319
1000Genomes_30X	South Asian	Sub	1202	C=0.5216	T=0.4784
1000Genomes_30X	East Asian	Sub	1170	C=0.2188	T=0.7812
1000Genomes_30X	American	Sub	980	C=0.855	T=0.145
1000Genomes	Global	Study-wide	5008	C=0.6991	T=0.3009
1000Genomes	African	Sub	1322	C=0.9879	T=0.0121
1000Genomes	East Asian	Sub	1008	C=0.2202	T=0.7798
1000Genomes	Europe	Sub	1006	C=0.8638	T=0.1362
1000Genomes	South Asian	Sub	978	C=0.518	T=0.482
1000Genomes	American	Sub	694	C=0.860	T=0.140
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8129	T=0.1871
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8687	T=0.1313
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8770	T=0.1230
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.0116	G=0.0000, T=0.9884
HapMap	Global	Study-wide	1778	C=0.7075	T=0.2925
HapMap	American	Sub	764	C=0.651	T=0.349
HapMap	African	Sub	586	C=0.993	T=0.007
HapMap	Asian	Sub	254	C=0.091	T=0.909
HapMap	Europe	Sub	174	C=0.897	T=0.103
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	C=0.8110	T=0.1890
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.882	T=0.118
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.875	T=0.125
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.516	T=0.484
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.880	T=0.120
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.50	T=0.50
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	C=0.97	T=0.03
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.866	T=0.134
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.048	T=0.952
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.048	T=0.952
A Vietnamese Genetic Variation Database	Global	Study-wide	611	C=0.319	T=0.681
Northern Sweden	ACPOP	Study-wide	600	C=0.773	T=0.227
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.897	T=0.103
PharmGKB Aggregated	Global	Study-wide	358	C=0.553	T=0.447
PharmGKB Aggregated	PA149208420	Sub	358	C=0.553	T=0.447
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.763	T=0.237
SGDP_PRJ	Global	Study-wide	264	C=0.288	T=0.712
Qatari	Global	Study-wide	216	C=0.866	T=0.134
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	36	C=0.25	T=0.75
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	16	C=1.00	T=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 16	NC_000016.10:g.48224287C>A
GRCh38.p14 chr 16	NC_000016.10:g.48224287C>G
GRCh38.p14 chr 16	NC_000016.10:g.48224287C>T
GRCh37.p13 chr 16	NC_000016.9:g.48258198C>A
GRCh37.p13 chr 16	NC_000016.9:g.48258198C>G
GRCh37.p13 chr 16	NC_000016.9:g.48258198C>T
ABCC11 RefSeqGene	NG_011522.2:g.28252G>T
ABCC11 RefSeqGene	NG_011522.2:g.28252G>C
ABCC11 RefSeqGene	NG_011522.2:g.28252G>A
ABCC11 RefSeqGene	NG_011522.1:g.15891G>T
ABCC11 RefSeqGene	NG_011522.1:g.15891G>C
ABCC11 RefSeqGene	NG_011522.1:g.15891G>A

Gene: ABCC11, ATP binding cassette subfamily C member 11 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC11 transcript variant 4	NM_001370496.1:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform c	NP_001357425.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant 4	NM_001370496.1:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform c	NP_001357425.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 4	NM_001370496.1:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform c	NP_001357425.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 2	NM_033151.4:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_149163.2:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant 2	NM_033151.4:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_149163.2:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 2	NM_033151.4:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_149163.2:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 3	NM_145186.3:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform b	NP_660187.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant 3	NM_145186.3:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform b	NP_660187.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 3	NM_145186.3:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform b	NP_660187.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 1	NM_032583.4:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_115972.2:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant 1	NM_032583.4:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_115972.2:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 1	NM_032583.4:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_115972.2:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 5	NM_001370497.1:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_001357426.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant 5	NM_001370497.1:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_001357426.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant 5	NM_001370497.1:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform a	NP_001357426.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X10	XM_011523398.4:c.	N/A	Genic Upstream Transcript Variant
ABCC11 transcript variant X7	XM_017023802.3:c.	N/A	Genic Upstream Transcript Variant
ABCC11 transcript variant X8	XM_024450475.2:c.	N/A	Genic Upstream Transcript Variant
ABCC11 transcript variant X1	XM_017023799.3:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879288.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant X1	XM_017023799.3:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879288.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X1	XM_017023799.3:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879288.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X2	XM_017023798.3:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879287.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant X2	XM_017023798.3:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879287.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X2	XM_017023798.3:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879287.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X3	XM_017023797.3:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879286.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant X3	XM_017023797.3:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879286.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X3	XM_017023797.3:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879286.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X4	XM_017023800.3:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879289.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant X4	XM_017023800.3:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879289.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X4	XM_017023800.3:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879289.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X6	XM_017023801.3:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X2	XP_016879290.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant X6	XM_017023801.3:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X2	XP_016879290.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X6	XM_017023801.3:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X2	XP_016879290.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X9	XM_047434818.1:c.538G>T	G [GGG] > W [TGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X4	XP_047290774.1:p.Gly180Trp	G (Gly) > W (Trp)	Missense Variant
ABCC11 transcript variant X9	XM_047434818.1:c.538G>C	G [GGG] > R [CGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X4	XP_047290774.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X9	XM_047434818.1:c.538G>A	G [GGG] > R [AGG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 11 isoform X4	XP_047290774.1:p.Gly180Arg	G (Gly) > R (Arg)	Missense Variant
ABCC11 transcript variant X5	XR_007064925.1:n.936G>T	N/A	Non Coding Transcript Variant
ABCC11 transcript variant X5	XR_007064925.1:n.936G>C	N/A	Non Coding Transcript Variant
ABCC11 transcript variant X5	XR_007064925.1:n.936G>A	N/A	Non Coding Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 18597 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000003737.3	Apocrine gland secretion, variation in	Benign
RCV000003738.2	Axillary odor	Benign
RCV000003739.2	Colostrum secretion	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	G	T
GRCh38.p14 chr 16	NC_000016.10:g.48224287=	NC_000016.10:g.48224287C>A	NC_000016.10:g.48224287C>G	NC_000016.10:g.48224287C>T
GRCh37.p13 chr 16	NC_000016.9:g.48258198=	NC_000016.9:g.48258198C>A	NC_000016.9:g.48258198C>G	NC_000016.9:g.48258198C>T
ABCC11 RefSeqGene	NG_011522.2:g.28252=	NG_011522.2:g.28252G>T	NG_011522.2:g.28252G>C	NG_011522.2:g.28252G>A
ABCC11 RefSeqGene	NG_011522.1:g.15891=	NG_011522.1:g.15891G>T	NG_011522.1:g.15891G>C	NG_011522.1:g.15891G>A
ABCC11 transcript variant 1	NM_032583.4:c.538=	NM_032583.4:c.538G>T	NM_032583.4:c.538G>C	NM_032583.4:c.538G>A
ABCC11 transcript variant 1	NM_032583.3:c.538=	NM_032583.3:c.538G>T	NM_032583.3:c.538G>C	NM_032583.3:c.538G>A
ABCC11 transcript variant 2	NM_033151.4:c.538=	NM_033151.4:c.538G>T	NM_033151.4:c.538G>C	NM_033151.4:c.538G>A
ABCC11 transcript variant 2	NM_033151.3:c.538=	NM_033151.3:c.538G>T	NM_033151.3:c.538G>C	NM_033151.3:c.538G>A
ABCC11 transcript variant 3	NM_145186.3:c.538=	NM_145186.3:c.538G>T	NM_145186.3:c.538G>C	NM_145186.3:c.538G>A
ABCC11 transcript variant 3	NM_145186.2:c.538=	NM_145186.2:c.538G>T	NM_145186.2:c.538G>C	NM_145186.2:c.538G>A
ABCC11 transcript variant 4	NM_001370496.1:c.538=	NM_001370496.1:c.538G>T	NM_001370496.1:c.538G>C	NM_001370496.1:c.538G>A
ABCC11 transcript variant 5	NM_001370497.1:c.538=	NM_001370497.1:c.538G>T	NM_001370497.1:c.538G>C	NM_001370497.1:c.538G>A
ABCC11 transcript variant X1	XM_017023799.3:c.538=	XM_017023799.3:c.538G>T	XM_017023799.3:c.538G>C	XM_017023799.3:c.538G>A
ABCC11 transcript variant X5	XM_017023799.2:c.538=	XM_017023799.2:c.538G>T	XM_017023799.2:c.538G>C	XM_017023799.2:c.538G>A
ABCC11 transcript variant X5	XM_017023799.1:c.538=	XM_017023799.1:c.538G>T	XM_017023799.1:c.538G>C	XM_017023799.1:c.538G>A
ABCC11 transcript variant X4	XM_017023800.3:c.538=	XM_017023800.3:c.538G>T	XM_017023800.3:c.538G>C	XM_017023800.3:c.538G>A
ABCC11 transcript variant X6	XM_017023800.2:c.538=	XM_017023800.2:c.538G>T	XM_017023800.2:c.538G>C	XM_017023800.2:c.538G>A
ABCC11 transcript variant X6	XM_017023800.1:c.538=	XM_017023800.1:c.538G>T	XM_017023800.1:c.538G>C	XM_017023800.1:c.538G>A
ABCC11 transcript variant X6	XM_017023801.3:c.538=	XM_017023801.3:c.538G>T	XM_017023801.3:c.538G>C	XM_017023801.3:c.538G>A
ABCC11 transcript variant X8	XM_017023801.2:c.538=	XM_017023801.2:c.538G>T	XM_017023801.2:c.538G>C	XM_017023801.2:c.538G>A
ABCC11 transcript variant X8	XM_017023801.1:c.538=	XM_017023801.1:c.538G>T	XM_017023801.1:c.538G>C	XM_017023801.1:c.538G>A
ABCC11 transcript variant X3	XM_017023797.3:c.538=	XM_017023797.3:c.538G>T	XM_017023797.3:c.538G>C	XM_017023797.3:c.538G>A
ABCC11 transcript variant X3	XM_017023797.2:c.538=	XM_017023797.2:c.538G>T	XM_017023797.2:c.538G>C	XM_017023797.2:c.538G>A
ABCC11 transcript variant X3	XM_017023797.1:c.538=	XM_017023797.1:c.538G>T	XM_017023797.1:c.538G>C	XM_017023797.1:c.538G>A
ABCC11 transcript variant X2	XM_017023798.3:c.538=	XM_017023798.3:c.538G>T	XM_017023798.3:c.538G>C	XM_017023798.3:c.538G>A
ABCC11 transcript variant X4	XM_017023798.2:c.538=	XM_017023798.2:c.538G>T	XM_017023798.2:c.538G>C	XM_017023798.2:c.538G>A
ABCC11 transcript variant X4	XM_017023798.1:c.538=	XM_017023798.1:c.538G>T	XM_017023798.1:c.538G>C	XM_017023798.1:c.538G>A
ABCC11 transcript variant X5	XR_007064925.1:n.936=	XR_007064925.1:n.936G>T	XR_007064925.1:n.936G>C	XR_007064925.1:n.936G>A
ABCC11 transcript variant X9	XM_047434818.1:c.538=	XM_047434818.1:c.538G>T	XM_047434818.1:c.538G>C	XM_047434818.1:c.538G>A
ATP-binding cassette sub-family C member 11 isoform a	NP_115972.2:p.Gly180=	NP_115972.2:p.Gly180Trp	NP_115972.2:p.Gly180Arg	NP_115972.2:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform a	NP_149163.2:p.Gly180=	NP_149163.2:p.Gly180Trp	NP_149163.2:p.Gly180Arg	NP_149163.2:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform b	NP_660187.1:p.Gly180=	NP_660187.1:p.Gly180Trp	NP_660187.1:p.Gly180Arg	NP_660187.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform c	NP_001357425.1:p.Gly180=	NP_001357425.1:p.Gly180Trp	NP_001357425.1:p.Gly180Arg	NP_001357425.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform a	NP_001357426.1:p.Gly180=	NP_001357426.1:p.Gly180Trp	NP_001357426.1:p.Gly180Arg	NP_001357426.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879288.1:p.Gly180=	XP_016879288.1:p.Gly180Trp	XP_016879288.1:p.Gly180Arg	XP_016879288.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879289.1:p.Gly180=	XP_016879289.1:p.Gly180Trp	XP_016879289.1:p.Gly180Arg	XP_016879289.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform X2	XP_016879290.1:p.Gly180=	XP_016879290.1:p.Gly180Trp	XP_016879290.1:p.Gly180Arg	XP_016879290.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879286.1:p.Gly180=	XP_016879286.1:p.Gly180Trp	XP_016879286.1:p.Gly180Arg	XP_016879286.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform X1	XP_016879287.1:p.Gly180=	XP_016879287.1:p.Gly180Trp	XP_016879287.1:p.Gly180Arg	XP_016879287.1:p.Gly180Arg
ATP-binding cassette sub-family C member 11 isoform X4	XP_047290774.1:p.Gly180=	XP_047290774.1:p.Gly180Trp	XP_047290774.1:p.Gly180Arg	XP_047290774.1:p.Gly180Arg

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

161 SubSNP, 30 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss24502061	Sep 20, 2004 (123)
2	PERLEGEN	ss69343262	May 17, 2007 (127)
3	AFFY	ss74815689	Aug 16, 2007 (128)
4	ILLUMINA	ss74889260	Dec 06, 2007 (129)
5	AFFY	ss76795292	Dec 06, 2007 (129)
6	PHARMGKB_AB_DME	ss84161164	Dec 14, 2007 (130)
7	CORNELL	ss86269467	Mar 23, 2008 (129)
8	SNP500CANCER	ss105439535	Feb 04, 2009 (130)
9	BGI	ss106469772	Feb 04, 2009 (130)
10	1000GENOMES	ss109306345	Jan 23, 2009 (130)
11	ILLUMINA	ss153727518	Dec 01, 2009 (131)
12	GMI	ss157323679	Dec 01, 2009 (131)
13	ILLUMINA	ss159328033	Dec 01, 2009 (131)
14	SEATTLESEQ	ss159732837	Dec 01, 2009 (131)
15	ILLUMINA	ss160459338	Dec 01, 2009 (131)
16	ILLUMINA	ss172906417	Jul 04, 2010 (132)
17	1000GENOMES	ss237014619	Jul 15, 2010 (132)
18	1000GENOMES	ss243355724	Jul 15, 2010 (132)
19	OMICIA	ss244239386	Aug 29, 2012 (137)
20	OMIM-CURATED-RECORDS	ss256240323	Aug 23, 2010 (132)
21	GMI	ss282522327	May 04, 2012 (137)
22	NHLBI-ESP	ss342427902	May 09, 2011 (134)
23	ILLUMINA	ss480290462	May 04, 2012 (137)
24	ILLUMINA	ss480301558	May 04, 2012 (137)
25	ILLUMINA	ss481053214	Sep 08, 2015 (146)
26	ILLUMINA	ss484943094	May 04, 2012 (137)
27	1000GENOMES	ss491102611	May 04, 2012 (137)
28	EXOME_CHIP	ss491507976	May 04, 2012 (137)
29	CLINSEQ_SNP	ss491718288	May 04, 2012 (137)
30	ILLUMINA	ss536987810	Sep 08, 2015 (146)
31	SSMP	ss660653496	Apr 25, 2013 (138)
32	ILLUMINA	ss778466745	Sep 08, 2015 (146)
33	ILLUMINA	ss780718363	Sep 08, 2015 (146)
34	ILLUMINA	ss782917842	Sep 08, 2015 (146)
35	ILLUMINA	ss783393864	Sep 08, 2015 (146)
36	ILLUMINA	ss783880969	Sep 08, 2015 (146)
37	ILLUMINA	ss832172918	Sep 08, 2015 (146)
38	ILLUMINA	ss832840044	Jul 13, 2019 (153)
39	ILLUMINA	ss833922489	Sep 08, 2015 (146)
40	EVA-GONL	ss992460816	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1067561333	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1080601326	Aug 21, 2014 (142)
43	1000GENOMES	ss1356131829	Aug 21, 2014 (142)
44	HAMMER_LAB	ss1397714573	Sep 08, 2015 (146)
45	DDI	ss1427839256	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1577903009	Apr 01, 2015 (144)
47	EVA_FINRISK	ss1584099810	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1634359395	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1677353428	Apr 01, 2015 (144)
50	EVA_EXAC	ss1692289027	Apr 01, 2015 (144)
51	EVA_DECODE	ss1696493105	Apr 01, 2015 (144)
52	EVA_MGP	ss1711428556	Apr 01, 2015 (144)
53	EVA_SVP	ss1713536925	Apr 01, 2015 (144)
54	ILLUMINA	ss1752192429	Sep 08, 2015 (146)
55	ILLUMINA	ss1752192430	Sep 08, 2015 (146)
56	ILLUMINA	ss1917907220	Feb 12, 2016 (147)
57	WEILL_CORNELL_DGM	ss1935895606	Feb 12, 2016 (147)
58	ILLUMINA	ss1946414232	Feb 12, 2016 (147)
59	ILLUMINA	ss1959676256	Feb 12, 2016 (147)
60	GENOMED	ss1968255048	Jul 19, 2016 (147)
61	JJLAB	ss2028729393	Sep 14, 2016 (149)
62	USC_VALOUEV	ss2157165053	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2211918386	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2628857366	Nov 08, 2017 (151)
65	ILLUMINA	ss2633313927	Nov 08, 2017 (151)
66	ILLUMINA	ss2635063566	Nov 08, 2017 (151)
67	GRF	ss2701688054	Nov 08, 2017 (151)
68	GNOMAD	ss2741965184	Nov 08, 2017 (151)
69	GNOMAD	ss2749536841	Nov 08, 2017 (151)
70	GNOMAD	ss2942700614	Nov 08, 2017 (151)
71	AFFY	ss2985067810	Nov 08, 2017 (151)
72	SWEGEN	ss3014471687	Nov 08, 2017 (151)
73	ILLUMINA	ss3021703245	Nov 08, 2017 (151)
74	BIOINF_KMB_FNS_UNIBA	ss3028183691	Nov 08, 2017 (151)
75	CSHL	ss3351440123	Nov 08, 2017 (151)
76	ILLUMINA	ss3627516051	Oct 12, 2018 (152)
77	ILLUMINA	ss3627516052	Oct 12, 2018 (152)
78	ILLUMINA	ss3631300534	Oct 12, 2018 (152)
79	ILLUMINA	ss3633119567	Oct 12, 2018 (152)
80	ILLUMINA	ss3633825577	Oct 12, 2018 (152)
81	ILLUMINA	ss3634640679	Oct 12, 2018 (152)
82	ILLUMINA	ss3634640680	Oct 12, 2018 (152)
83	ILLUMINA	ss3635513905	Oct 12, 2018 (152)
84	ILLUMINA	ss3636331417	Oct 12, 2018 (152)
85	ILLUMINA	ss3637265333	Oct 12, 2018 (152)
86	ILLUMINA	ss3638123531	Oct 12, 2018 (152)
87	ILLUMINA	ss3640347998	Oct 12, 2018 (152)
88	ILLUMINA	ss3640347999	Oct 12, 2018 (152)
89	ILLUMINA	ss3643104847	Oct 12, 2018 (152)
90	ILLUMINA	ss3644667294	Oct 12, 2018 (152)
91	OMUKHERJEE_ADBS	ss3646494131	Oct 12, 2018 (152)
92	ILLUMINA	ss3652111215	Oct 12, 2018 (152)
93	ILLUMINA	ss3653839530	Oct 12, 2018 (152)
94	EGCUT_WGS	ss3681444591	Jul 13, 2019 (153)
95	EVA_DECODE	ss3699208690	Jul 13, 2019 (153)
96	ILLUMINA	ss3725559294	Jul 13, 2019 (153)
97	ACPOP	ss3741488027	Jul 13, 2019 (153)
98	ILLUMINA	ss3744431891	Jul 13, 2019 (153)
99	ILLUMINA	ss3744941103	Jul 13, 2019 (153)
100	ILLUMINA	ss3744941104	Jul 13, 2019 (153)
101	EVA	ss3753901691	Jul 13, 2019 (153)
102	PAGE_CC	ss3771877392	Jul 13, 2019 (153)
103	ILLUMINA	ss3772439403	Jul 13, 2019 (153)
104	ILLUMINA	ss3772439404	Jul 13, 2019 (153)
105	PACBIO	ss3788032560	Jul 13, 2019 (153)
106	PACBIO	ss3793016514	Jul 13, 2019 (153)
107	PACBIO	ss3797901460	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3819192541	Jul 13, 2019 (153)
109	EVA	ss3825013115	Apr 27, 2020 (154)
110	EVA	ss3825878722	Apr 27, 2020 (154)
111	EVA	ss3834556427	Apr 27, 2020 (154)
112	SGDP_PRJ	ss3884381597	Apr 27, 2020 (154)
113	KRGDB	ss3933860400	Apr 27, 2020 (154)
114	FSA-LAB	ss3984093198	Apr 26, 2021 (155)
115	EVA	ss3984712340	Apr 26, 2021 (155)
116	EVA	ss3985754688	Apr 26, 2021 (155)
117	EVA	ss3986070687	Apr 26, 2021 (155)
118	EVA	ss3986686132	Apr 26, 2021 (155)
119	EVA	ss4017734500	Apr 26, 2021 (155)
120	TOMMO_GENOMICS	ss6163111746	Nov 03, 2024 (157)
121	EVA	ss6271293039	Nov 03, 2024 (157)
122	EVA	ss6316127832	Nov 03, 2024 (157)
123	EVA	ss6322548358	Nov 03, 2024 (157)
124	EVA	ss6333123636	Nov 03, 2024 (157)
125	YEGNASUBRAMANIAN_LAB	ss6346591846	Nov 03, 2024 (157)
126	EVA	ss6349910363	Nov 03, 2024 (157)
127	KOGIC	ss6393835442	Nov 03, 2024 (157)
128	EVA	ss6404153821	Nov 03, 2024 (157)
129	GNOMAD	ss6457082716	Nov 03, 2024 (157)
130	GNOMAD	ss6457082717	Nov 03, 2024 (157)
131	GNOMAD	ss6457082718	Nov 03, 2024 (157)
132	GNOMAD	ss6996668532	Nov 03, 2024 (157)
133	TOPMED	ss8014400049	Nov 03, 2024 (157)
134	TOMMO_GENOMICS	ss8219450377	Nov 03, 2024 (157)
135	EVA	ss8236933250	Nov 03, 2024 (157)
136	EVA	ss8237666364	Nov 03, 2024 (157)
137	1000G_HIGH_COVERAGE	ss8300863938	Nov 03, 2024 (157)
138	TRAN_CS_UWATERLOO	ss8314444299	Nov 03, 2024 (157)
139	EVA	ss8315835470	Nov 03, 2024 (157)
140	EVA	ss8423531347	Nov 03, 2024 (157)
141	HUGCELL_USP	ss8494221068	Nov 03, 2024 (157)
142	1000G_HIGH_COVERAGE	ss8603461828	Nov 03, 2024 (157)
143	EVA	ss8624062229	Nov 03, 2024 (157)
144	SANFORD_IMAGENETICS	ss8624379058	Nov 03, 2024 (157)
145	SANFORD_IMAGENETICS	ss8658850530	Nov 03, 2024 (157)
146	TOMMO_GENOMICS	ss8774425681	Nov 03, 2024 (157)
147	EVA	ss8799956801	Nov 03, 2024 (157)
148	YY_MCH	ss8815950648	Nov 03, 2024 (157)
149	EVA	ss8846372619	Nov 03, 2024 (157)
150	EVA	ss8847461771	Nov 03, 2024 (157)
151	EVA	ss8847770007	Nov 03, 2024 (157)
152	EVA	ss8848424623	Nov 03, 2024 (157)
153	EVA	ss8851555484	Nov 03, 2024 (157)
154	EVA	ss8898983430	Nov 03, 2024 (157)
155	EVA	ss8950236122	Nov 03, 2024 (157)
156	EVA	ss8979484151	Nov 03, 2024 (157)
157	EVA	ss8981295211	Nov 03, 2024 (157)
158	EVA	ss8981800847	Nov 03, 2024 (157)
159	EVA	ss8981800848	Nov 03, 2024 (157)
160	LNCC-LABINFO	ss8982092824	Nov 03, 2024 (157)
161	EVA	ss8982263834	Nov 03, 2024 (157)
162	1000Genomes	NC_000016.9 - 48258198	Oct 12, 2018 (152)
163	1000Genomes_30X	NC_000016.10 - 48224287	Nov 03, 2024 (157)
164	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 48258198	Oct 12, 2018 (152)
165	Genome-wide autozygosity in Daghestan	NC_000016.8 - 46815699	Apr 27, 2020 (154)
166	Genetic variation in the Estonian population	NC_000016.9 - 48258198	Oct 12, 2018 (152)
167	ExAC	NC_000016.9 - 48258198	Oct 12, 2018 (152)
168	FINRISK	NC_000016.9 - 48258198	Apr 27, 2020 (154)
169	The Danish reference pan genome	NC_000016.9 - 48258198	Apr 27, 2020 (154)
170	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 52417445 (NC_000016.10:48224286:C:A 1/1401278) Row 52417446 (NC_000016.10:48224286:C:G 3/1401278) Row 52417447 (NC_000016.10:48224286:C:T 235060/1401130)	-	Nov 03, 2024 (157)
171	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 52417445 (NC_000016.10:48224286:C:A 1/1401278) Row 52417446 (NC_000016.10:48224286:C:G 3/1401278) Row 52417447 (NC_000016.10:48224286:C:T 235060/1401130)	-	Nov 03, 2024 (157)
172	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 52417445 (NC_000016.10:48224286:C:A 1/1401278) Row 52417446 (NC_000016.10:48224286:C:G 3/1401278) Row 52417447 (NC_000016.10:48224286:C:T 235060/1401130)	-	Nov 03, 2024 (157)
173	gnomAD v4 - Genomes	NC_000016.10 - 48224287	Nov 03, 2024 (157)
174	Genome of the Netherlands Release 5	NC_000016.9 - 48258198	Apr 27, 2020 (154)
175	HapMap	NC_000016.10 - 48224287	Apr 27, 2020 (154)
176	KOREAN population from KRGDB	NC_000016.9 - 48258198	Apr 27, 2020 (154)
177	Korean Genome Project 4K	NC_000016.10 - 48224287	Nov 03, 2024 (157)
178	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 48258198	Apr 27, 2020 (154)
179	Northern Sweden	NC_000016.9 - 48258198	Jul 13, 2019 (153)
180	The PAGE Study	NC_000016.10 - 48224287	Jul 13, 2019 (153)
181	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 48258198	Apr 26, 2021 (155)
182	CNV burdens in cranial meningiomas	NC_000016.9 - 48258198	Apr 26, 2021 (155)
183	PharmGKB Aggregated	NC_000016.10 - 48224287	Apr 27, 2020 (154)
184	Qatari	NC_000016.9 - 48258198	Apr 27, 2020 (154)
185	SGDP_PRJ	NC_000016.9 - 48258198	Apr 27, 2020 (154)
186	Siberian	NC_000016.9 - 48258198	Apr 27, 2020 (154)
187	38KJPN	NC_000016.10 - 48224287	Nov 03, 2024 (157)
188	TopMed	NC_000016.10 - 48224287	Apr 26, 2021 (155)
189	UK 10K study - Twins	NC_000016.9 - 48258198	Oct 12, 2018 (152)
190	A Vietnamese Genetic Variation Database	NC_000016.9 - 48258198	Jul 13, 2019 (153)
191	ALFA	NC_000016.10 - 48224287	Nov 03, 2024 (157)
192	ClinVar	RCV000003737.3	Oct 12, 2018 (152)
193	ClinVar	RCV000003738.2	Oct 12, 2018 (152)
194	ClinVar	RCV000003739.2	Oct 12, 2018 (152)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs52813591	Sep 21, 2007 (128)
rs58140753	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss6457082716	NC_000016.10:48224286:C:A	NC_000016.10:48224286:C:A
41037794, ss3933860400	NC_000016.9:48258197:C:G	NC_000016.10:48224286:C:G	(self)
ss6457082717	NC_000016.10:48224286:C:G	NC_000016.10:48224286:C:G
184582, ss76795292, ss109306345, ss282522327, ss480290462, ss491718288, ss1397714573, ss1696493105, ss1713536925, ss2635063566, ss3643104847	NC_000016.8:46815698:C:T	NC_000016.10:48224286:C:T	(self)
69290588, 38430163, 27182839, 2695771, 96271, 4115878, 17141649, 41037794, 544316, 14772892, 980615, 261875, 17937528, 36398577, 9681407, 38430163, 8527680, ss237014619, ss243355724, ss342427902, ss480301558, ss481053214, ss484943094, ss491102611, ss491507976, ss536987810, ss660653496, ss778466745, ss780718363, ss782917842, ss783393864, ss783880969, ss832172918, ss832840044, ss833922489, ss992460816, ss1067561333, ss1080601326, ss1356131829, ss1427839256, ss1577903009, ss1584099810, ss1634359395, ss1677353428, ss1692289027, ss1711428556, ss1752192429, ss1752192430, ss1917907220, ss1935895606, ss1946414232, ss1959676256, ss1968255048, ss2028729393, ss2157165053, ss2628857366, ss2633313927, ss2701688054, ss2741965184, ss2749536841, ss2942700614, ss2985067810, ss3014471687, ss3021703245, ss3351440123, ss3627516051, ss3627516052, ss3631300534, ss3633119567, ss3633825577, ss3634640679, ss3634640680, ss3635513905, ss3636331417, ss3637265333, ss3638123531, ss3640347998, ss3640347999, ss3644667294, ss3646494131, ss3652111215, ss3653839530, ss3681444591, ss3741488027, ss3744431891, ss3744941103, ss3744941104, ss3753901691, ss3772439403, ss3772439404, ss3788032560, ss3793016514, ss3797901460, ss3825013115, ss3825878722, ss3834556427, ss3884381597, ss3933860400, ss3984093198, ss3984712340, ss3985754688, ss3986070687, ss3986686132, ss4017734500, ss6271293039, ss6316127832, ss6322548358, ss6333123636, ss6346591846, ss6349910363, ss8219450377, ss8315835470, ss8423531347, ss8624062229, ss8624379058, ss8658850530, ss8799956801, ss8846372619, ss8847461771, ss8847770007, ss8848424623, ss8950236122, ss8979484151, ss8981295211, ss8981800847, ss8981800848, ss8982263834	NC_000016.9:48258197:C:T	NC_000016.10:48224286:C:T	(self)
RCV000003737.3, RCV000003738.2, RCV000003739.2, 90987763, 524132855, 1376870, 43687340, 1098861, 4214, 180487566, 229945710, 1275446138, ss244239386, ss256240323, ss2211918386, ss3028183691, ss3699208690, ss3725559294, ss3771877392, ss3819192541, ss6163111746, ss6393835442, ss6404153821, ss6457082718, ss6996668532, ss8014400049, ss8236933250, ss8237666364, ss8300863938, ss8314444299, ss8494221068, ss8603461828, ss8774425681, ss8815950648, ss8851555484, ss8898983430, ss8982092824	NC_000016.10:48224286:C:T	NC_000016.10:48224286:C:T	(self)
ss24502061, ss69343262, ss74815689, ss74889260, ss84161164, ss86269467, ss105439535, ss106469772, ss153727518, ss157323679, ss159328033, ss159732837, ss160459338, ss172906417	NT_010498.15:1872396:C:T	NC_000016.10:48224286:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

27 citations for rs17822931

PMID	Title	Author	Year	Journal
16255080	A haplotype map of the human genome.		2005	Nature
16444273	A SNP in the ABCC11 gene is the determinant of human earwax type.	Yoshiura K et al.	2006	Nature genetics
17394018	A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.	Miura K et al.	2007	Human genetics
18037328	Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene.	Kitano T et al.	2008	Legal medicine (Tokyo, Japan)
18817904	Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.	Yamaguchi-Kabata Y et al.	2008	American journal of human genetics
19650936	A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.	Nakano M et al.	2009	BMC genetics
19710689	A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.	Martin A et al.	2010	The Journal of investigative dermatology
19737746	Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.	Xue Y et al.	2009	Genetics
20937735	The impact of natural selection on an ABCC11 SNP determining earwax type.	Ohashi J et al.	2011	Molecular biology and evolution
21423094	Down-regulation of ABCC11 protein (MRP8) in human breast cancer.	Sosonkina N et al.	2011	Experimental oncology
21467728	Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.	Wakai K et al.	2011	Journal of epidemiology
21589938	Targeted assembly of short sequence reads.	Warren RL et al.	2011	PloS one
23325016	Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene.	Rodriguez S et al.	2013	The Journal of investigative dermatology
23760047	The pharmacogenetics of body odor: as easy as ABCC?	Brown S et al.	2013	The Journal of investigative dermatology
24019265	Affordable hands-on DNA sequencing and genotyping: an exercise for teaching DNA analysis to undergraduates.	Shah K et al.	2013	Biochemistry and molecular biology education
25887915	Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.	Ilyas M et al.	2015	BMC genomics
27027309	Genetic Determinants of Nipple Aspiration Fluid Yield.	Shidfar A et al.	2016	Annals of surgical oncology
28485377	A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population.	Ren Y et al.	2017	Scientific reports
29602456	Are human ATP-binding cassette transporter C11 and earwax associated with the incidence of cholesteatoma?	Nakagawa H et al.	2018	Medical hypotheses
30047321	A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.	Hori YS et al.	2017	Human biology
30883634	A functional single nucleotide polymorphism in ABCC11, rs17822931, is associated with the risk of breast cancer in Japanese.	Ishiguro J et al.	2019	Carcinogenesis
30971527	[Correlation between estrogen receptor β and ABCC11 gene single nucleotide polymorphisms and axillary osmidrosis].	Hu R et al.	2019	Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
33334016	Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response.	Hlaváč V et al.	2020	International journal of molecular sciences
34551727	Admixture with indigenous people helps local adaptation: admixture-enabled selection in Polynesians.	Isshiki M et al.	2021	BMC ecology and evolution
34951141	Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).	Matsumoto H et al.	2022	Molecular genetics & genomic medicine
35078690	Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population.	Kutsuwada Y et al.	2022	Journal of dermatological science
35176104	Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.	Rauf S et al.	2022	PloS one

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs17822931