Name: rs2295769
Published: September 21, 2022
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.

rs2295769

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2955568 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.292694 (110620/377938, ALFA)
C=0.220042 (58243/264690, TOPMED)
C=0.265735 (66825/251472, GnomAD_exome) (+ 25 more)
C=0.221969 (31105/140132, GnomAD)
C=0.264454 (32100/121382, ExAC)
C=0.16975 (13359/78698, PAGE_STUDY)
C=0.25681 (7257/28258, 14KJPN)
C=0.25716 (4310/16760, 8.3KJPN)
C=0.22028 (2865/13006, GO-ESP)
C=0.2108 (1350/6404, 1000G_30x)
C=0.2129 (1066/5008, 1000G)
C=0.2998 (1343/4480, Estonian)
C=0.3015 (1162/3854, ALSPAC)
C=0.3180 (1179/3708, TWINSUK)
C=0.3017 (884/2930, KOREAN)
C=0.2440 (508/2082, HGDP_Stanford)
C=0.1905 (360/1890, HapMap)
C=0.2980 (546/1832, Korea1K)
C=0.286 (285/998, GoNL)
C=0.214 (131/612, Vietnamese)
C=0.295 (177/600, NorthernSweden)
C=0.288 (154/534, MGP)
C=0.230 (70/304, FINRISK)
C=0.407 (88/216, Qatari)
T=0.380 (79/208, SGDP_PRJ)
C=0.31 (20/64, Ancient Sardinia)
T=0.40 (17/42, Siberian)
C=0.28 (11/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPINB6 : Missense Variant
Publications: 2 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	394322	T=0.710107	C=0.289893	0.507321	0.087106	0.405572	24
European	Sub	332948	T=0.697538	C=0.302462	0.487355	0.092279	0.420366	2
African	Sub	16540	T=0.92062	C=0.07938	0.849577	0.008343	0.14208	4
African Others	Sub	594	T=0.958	C=0.042	0.915825	0.0	0.084175	0
African American	Sub	15946	T=0.91923	C=0.08077	0.847109	0.008654	0.144237	4
Asian	Sub	6962	T=0.7284	C=0.2716	0.535191	0.078426	0.386383	1
East Asian	Sub	4998	T=0.7285	C=0.2715	0.535014	0.078031	0.386955	1
Other Asian	Sub	1964	T=0.7281	C=0.2719	0.535642	0.07943	0.384929	0
Latin American 1	Sub	1488	T=0.7883	C=0.2117	0.615591	0.038978	0.34543	1
Latin American 2	Sub	7222	T=0.7809	C=0.2191	0.614511	0.052617	0.332872	2
South Asian	Sub	5220	T=0.7073	C=0.2927	0.502299	0.087739	0.409962	0
Other	Sub	23942	T=0.70855	C=0.29145	0.502464	0.085373	0.412163	0

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	377938	T=0.707306	C=0.292694
Allele Frequency Aggregator	European	Sub	322840	T=0.697274	C=0.302726
Allele Frequency Aggregator	Other	Sub	22496	T=0.70590	C=0.29410
Allele Frequency Aggregator	African	Sub	11710	T=0.91836	C=0.08164
Allele Frequency Aggregator	Latin American 2	Sub	7222	T=0.7809	C=0.2191
Allele Frequency Aggregator	Asian	Sub	6962	T=0.7284	C=0.2716
Allele Frequency Aggregator	South Asian	Sub	5220	T=0.7073	C=0.2927
Allele Frequency Aggregator	Latin American 1	Sub	1488	T=0.7883	C=0.2117
TopMed	Global	Study-wide	264690	T=0.779958	C=0.220042
gnomAD - Exomes	Global	Study-wide	251472	T=0.734265	C=0.265735
gnomAD - Exomes	European	Sub	135396	T=0.711749	C=0.288251
gnomAD - Exomes	Asian	Sub	49008	T=0.70766	C=0.29234
gnomAD - Exomes	American	Sub	34592	T=0.78778	C=0.21222
gnomAD - Exomes	African	Sub	16256	T=0.93658	C=0.06342
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	T=0.67242	C=0.32758
gnomAD - Exomes	Other	Sub	6140	T=0.7075	C=0.2925
gnomAD - Genomes	Global	Study-wide	140132	T=0.778031	C=0.221969
gnomAD - Genomes	European	Sub	75886	T=0.70978	C=0.29022
gnomAD - Genomes	African	Sub	41996	T=0.92780	C=0.07220
gnomAD - Genomes	American	Sub	13650	T=0.73099	C=0.26901
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.6707	C=0.3293
gnomAD - Genomes	East Asian	Sub	3134	T=0.7419	C=0.2581
gnomAD - Genomes	Other	Sub	2144	T=0.7789	C=0.2211
ExAC	Global	Study-wide	121382	T=0.735546	C=0.264454
ExAC	Europe	Sub	73344	T=0.70749	C=0.29251
ExAC	Asian	Sub	25150	T=0.70350	C=0.29650
ExAC	American	Sub	11578	T=0.80204	C=0.19796
ExAC	African	Sub	10404	T=0.93627	C=0.06373
ExAC	Other	Sub	906	T=0.742	C=0.258
The PAGE Study	Global	Study-wide	78698	T=0.83025	C=0.16975
The PAGE Study	AfricanAmerican	Sub	32514	T=0.92114	C=0.07886
The PAGE Study	Mexican	Sub	10810	T=0.79315	C=0.20685
The PAGE Study	Asian	Sub	8316	T=0.7233	C=0.2767
The PAGE Study	PuertoRican	Sub	7918	T=0.7647	C=0.2353
The PAGE Study	NativeHawaiian	Sub	4534	T=0.7922	C=0.2078
The PAGE Study	Cuban	Sub	4230	T=0.7485	C=0.2515
The PAGE Study	Dominican	Sub	3828	T=0.8101	C=0.1899
The PAGE Study	CentralAmerican	Sub	2450	T=0.7686	C=0.2314
The PAGE Study	SouthAmerican	Sub	1982	T=0.7381	C=0.2619
The PAGE Study	NativeAmerican	Sub	1260	T=0.7563	C=0.2437
The PAGE Study	SouthAsian	Sub	856	T=0.686	C=0.314
14KJPN	JAPANESE	Study-wide	28258	T=0.74319	C=0.25681
8.3KJPN	JAPANESE	Study-wide	16760	T=0.74284	C=0.25716
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.77972	C=0.22028
GO Exome Sequencing Project	European American	Sub	8600	T=0.7007	C=0.2993
GO Exome Sequencing Project	African American	Sub	4406	T=0.9340	C=0.0660
1000Genomes_30x	Global	Study-wide	6404	T=0.7892	C=0.2108
1000Genomes_30x	African	Sub	1786	T=0.9698	C=0.0302
1000Genomes_30x	Europe	Sub	1266	T=0.6943	C=0.3057
1000Genomes_30x	South Asian	Sub	1202	T=0.7097	C=0.2903
1000Genomes_30x	East Asian	Sub	1170	T=0.7231	C=0.2769
1000Genomes_30x	American	Sub	980	T=0.759	C=0.241
1000Genomes	Global	Study-wide	5008	T=0.7871	C=0.2129
1000Genomes	African	Sub	1322	T=0.9705	C=0.0295
1000Genomes	East Asian	Sub	1008	T=0.7272	C=0.2728
1000Genomes	Europe	Sub	1006	T=0.7008	C=0.2992
1000Genomes	South Asian	Sub	978	T=0.714	C=0.286
1000Genomes	American	Sub	694	T=0.754	C=0.246
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7002	C=0.2998
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6985	C=0.3015
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6820	C=0.3180
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6983	C=0.3017
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.7560	C=0.2440
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.696	C=0.304
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.766	C=0.234
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	T=0.730	C=0.270
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.672	C=0.328
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.975	C=0.025
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.917	C=0.083
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.38	C=0.62
HapMap	Global	Study-wide	1890	T=0.8095	C=0.1905
HapMap	American	Sub	768	T=0.750	C=0.250
HapMap	African	Sub	692	T=0.941	C=0.059
HapMap	Asian	Sub	254	T=0.728	C=0.272
HapMap	Europe	Sub	176	T=0.670	C=0.330
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7020	C=0.2980
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.714	C=0.286
A Vietnamese Genetic Variation Database	Global	Study-wide	612	T=0.786	C=0.214
Northern Sweden	ACPOP	Study-wide	600	T=0.705	C=0.295
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.712	C=0.288
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.770	C=0.230
Qatari	Global	Study-wide	216	T=0.593	C=0.407
SGDP_PRJ	Global	Study-wide	208	T=0.380	C=0.620
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	T=0.69	C=0.31
Siberian	Global	Study-wide	42	T=0.40	C=0.60
The Danish reference pan genome	Danish	Study-wide	40	T=0.72	C=0.28

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 6	NC_000006.12:g.2955568T>C
GRCh37.p13 chr 6	NC_000006.11:g.2955802T>C
SERPINB6 RefSeqGene	NG_027692.1:g.21598A>G

Gene: SERPINB6, serpin family B member 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINB6 transcript variant 6	NM_001271825.2:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform a	NP_001258754.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.310A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform c	NP_001258751.1:p.Met104Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform a	NP_001361445.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.280A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform b	NP_001361444.1:p.Met94Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform a	NP_001284629.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform a	NP_001284628.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 2	NM_001195291.3:c.280A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform b	NP_001182220.2:p.Met94Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.325A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform d	NP_001258752.1:p.Met109Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 1	NM_004568.6:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform a	NP_004559.4:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform a	NP_001258753.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 11	NM_001374517.1:c.136A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform e	NP_001361446.1:p.Met46Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 12	NR_164657.1:n.313A>G	N/A	Non Coding Transcript Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.502A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274839.1:p.Met168Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X2	XM_011514672.2:c.502A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X1	XP_011512974.1:p.Met168Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.502A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274840.1:p.Met168Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.502A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274841.1:p.Met168Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.502A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274843.1:p.Met168Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.502A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274844.1:p.Met168Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.280A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X2	XP_047274845.1:p.Met94Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.280A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X5	XP_047274846.1:p.Met94Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X3	XP_047274847.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X3	XP_047274848.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.136A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X4	XP_016866430.1:p.Met46Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.136A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X4	XP_047274849.1:p.Met46Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.136A>G	M [ATG] > V [GTG]	Coding Sequence Variant
serpin B6 isoform X4	XP_024302233.1:p.Met46Val	M (Met) > V (Val)	Missense 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: C (allele ID: 53300 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000037108.5	not specified	Benign
RCV001807008.2	Autosomal recessive nonsyndromic hearing loss 91	Benign
RCV002054640.3	not provided	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	T=	C
GRCh38.p14 chr 6	NC_000006.12:g.2955568=	NC_000006.12:g.2955568T>C
GRCh37.p13 chr 6	NC_000006.11:g.2955802=	NC_000006.11:g.2955802T>C
SERPINB6 RefSeqGene	NG_027692.1:g.21598=	NG_027692.1:g.21598A>G
SERPINB6 transcript variant 1	NM_004568.6:c.268=	NM_004568.6:c.268A>G
SERPINB6 transcript variant 1	NM_004568.5:c.268=	NM_004568.5:c.268A>G
SERPINB6 transcript variant 2	NM_001195291.3:c.280=	NM_001195291.3:c.280A>G
SERPINB6 transcript variant 2	NM_001195291.2:c.280=	NM_001195291.2:c.280A>G
SERPINB6 transcript variant 4	NM_001271823.2:c.325=	NM_001271823.2:c.325A>G
SERPINB6 transcript variant 4	NM_001271823.1:c.325=	NM_001271823.1:c.325A>G
SERPINB6 transcript variant 3	NM_001271822.2:c.310=	NM_001271822.2:c.310A>G
SERPINB6 transcript variant 3	NM_001271822.1:c.310=	NM_001271822.1:c.310A>G
SERPINB6 transcript variant 7	NM_001297699.2:c.268=	NM_001297699.2:c.268A>G
SERPINB6 transcript variant 7	NM_001297699.1:c.268=	NM_001297699.1:c.268A>G
SERPINB6 transcript variant 6	NM_001271825.2:c.268=	NM_001271825.2:c.268A>G
SERPINB6 transcript variant 6	NM_001271825.1:c.268=	NM_001271825.1:c.268A>G
SERPINB6 transcript variant 8	NM_001297700.2:c.268=	NM_001297700.2:c.268A>G
SERPINB6 transcript variant 8	NM_001297700.1:c.268=	NM_001297700.1:c.268A>G
SERPINB6 transcript variant 5	NM_001271824.2:c.268=	NM_001271824.2:c.268A>G
SERPINB6 transcript variant 5	NM_001271824.1:c.268=	NM_001271824.1:c.268A>G
SERPINB6 transcript variant 9	NM_001374515.1:c.280=	NM_001374515.1:c.280A>G
SERPINB6 transcript variant 11	NM_001374517.1:c.136=	NM_001374517.1:c.136A>G
SERPINB6 transcript variant 12	NR_164657.1:n.313=	NR_164657.1:n.313A>G
SERPINB6 transcript variant 10	NM_001374516.1:c.268=	NM_001374516.1:c.268A>G
SERPINB6 transcript variant X10	XM_017010941.2:c.136=	XM_017010941.2:c.136A>G
SERPINB6 transcript variant X7	XM_017010941.1:c.136=	XM_017010941.1:c.136A>G
SERPINB6 transcript variant X2	XM_011514672.2:c.502=	XM_011514672.2:c.502A>G
SERPINB6 transcript variant X1	XM_011514672.1:c.502=	XM_011514672.1:c.502A>G
SERPINB6 transcript variant X13	XM_024446465.2:c.136=	XM_024446465.2:c.136A>G
SERPINB6 transcript variant X9	XM_024446465.1:c.136=	XM_024446465.1:c.136A>G
SERPINB6 transcript variant X1	XM_047418883.1:c.502=	XM_047418883.1:c.502A>G
SERPINB6 transcript variant X7	XM_047418889.1:c.280=	XM_047418889.1:c.280A>G
SERPINB6 transcript variant X11	XM_047418890.1:c.280=	XM_047418890.1:c.280A>G
SERPINB6 transcript variant X12	XM_047418891.1:c.268=	XM_047418891.1:c.268A>G
SERPINB6 transcript variant X3	XM_047418884.1:c.502=	XM_047418884.1:c.502A>G
SERPINB6 transcript variant X5	XM_047418887.1:c.502=	XM_047418887.1:c.502A>G
SERPINB6 transcript variant X4	XM_047418885.1:c.502=	XM_047418885.1:c.502A>G
SERPINB6 transcript variant X8	XM_047418892.1:c.268=	XM_047418892.1:c.268A>G
SERPINB6 transcript variant X6	XM_047418888.1:c.502=	XM_047418888.1:c.502A>G
SERPINB6 transcript variant X9	XM_047418893.1:c.136=	XM_047418893.1:c.136A>G
serpin B6 isoform a	NP_004559.4:p.Met90=	NP_004559.4:p.Met90Val
serpin B6 isoform b	NP_001182220.2:p.Met94=	NP_001182220.2:p.Met94Val
serpin B6 isoform d	NP_001258752.1:p.Met109=	NP_001258752.1:p.Met109Val
serpin B6 isoform c	NP_001258751.1:p.Met104=	NP_001258751.1:p.Met104Val
serpin B6 isoform a	NP_001284628.1:p.Met90=	NP_001284628.1:p.Met90Val
serpin B6 isoform a	NP_001258754.1:p.Met90=	NP_001258754.1:p.Met90Val
serpin B6 isoform a	NP_001284629.1:p.Met90=	NP_001284629.1:p.Met90Val
serpin B6 isoform a	NP_001258753.1:p.Met90=	NP_001258753.1:p.Met90Val
serpin B6 isoform b	NP_001361444.1:p.Met94=	NP_001361444.1:p.Met94Val
serpin B6 isoform e	NP_001361446.1:p.Met46=	NP_001361446.1:p.Met46Val
serpin B6 isoform a	NP_001361445.1:p.Met90=	NP_001361445.1:p.Met90Val
serpin B6 isoform X4	XP_016866430.1:p.Met46=	XP_016866430.1:p.Met46Val
serpin B6 isoform X1	XP_011512974.1:p.Met168=	XP_011512974.1:p.Met168Val
serpin B6 isoform X4	XP_024302233.1:p.Met46=	XP_024302233.1:p.Met46Val
serpin B6 isoform X1	XP_047274839.1:p.Met168=	XP_047274839.1:p.Met168Val
serpin B6 isoform X2	XP_047274845.1:p.Met94=	XP_047274845.1:p.Met94Val
serpin B6 isoform X5	XP_047274846.1:p.Met94=	XP_047274846.1:p.Met94Val
serpin B6 isoform X3	XP_047274847.1:p.Met90=	XP_047274847.1:p.Met90Val
serpin B6 isoform X1	XP_047274840.1:p.Met168=	XP_047274840.1:p.Met168Val
serpin B6 isoform X1	XP_047274843.1:p.Met168=	XP_047274843.1:p.Met168Val
serpin B6 isoform X1	XP_047274841.1:p.Met168=	XP_047274841.1:p.Met168Val
serpin B6 isoform X3	XP_047274848.1:p.Met90=	XP_047274848.1:p.Met90Val
serpin B6 isoform X1	XP_047274844.1:p.Met168=	XP_047274844.1:p.Met168Val
serpin B6 isoform X4	XP_047274849.1:p.Met46=	XP_047274849.1:p.Met46Val

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#.

174 SubSNP, 28 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3239646	Sep 28, 2001 (100)
2	CGAP-GAI	ss16254067	Feb 27, 2004 (120)
3	PERLEGEN	ss24423703	Sep 20, 2004 (123)
4	MGC_GENOME_DIFF	ss28510350	Sep 24, 2004 (126)
5	APPLERA_GI	ss48420796	Mar 10, 2006 (126)
6	ILLUMINA	ss66677364	Dec 02, 2006 (127)
7	ILLUMINA	ss67243851	Dec 02, 2006 (127)
8	ILLUMINA	ss67640742	Dec 02, 2006 (127)
9	PERLEGEN	ss68962603	May 18, 2007 (127)
10	ILLUMINA	ss70722187	May 26, 2008 (130)
11	ILLUMINA	ss71290658	May 18, 2007 (127)
12	AFFY	ss74806965	Aug 16, 2007 (128)
13	ILLUMINA	ss75598975	Dec 07, 2007 (129)
14	HGSV	ss78307642	Dec 07, 2007 (129)
15	ILLUMINA	ss79127804	Dec 16, 2007 (130)
16	KRIBB_YJKIM	ss84026556	Dec 16, 2007 (130)
17	CANCER-GENOME	ss86345363	Mar 23, 2008 (129)
18	HUMANGENOME_JCVI	ss98361180	Feb 06, 2009 (130)
19	1000GENOMES	ss109699879	Jan 24, 2009 (130)
20	ILLUMINA	ss120036699	Dec 01, 2009 (131)
21	ILLUMINA	ss121992750	Dec 01, 2009 (131)
22	ENSEMBL	ss143503965	Dec 01, 2009 (131)
23	ILLUMINA	ss153901110	Dec 01, 2009 (131)
24	GMI	ss156453506	Dec 01, 2009 (131)
25	ILLUMINA	ss159378925	Dec 01, 2009 (131)
26	SEATTLESEQ	ss159711129	Dec 01, 2009 (131)
27	ILLUMINA	ss160531921	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss161966106	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss166030453	Jul 04, 2010 (132)
30	ILLUMINA	ss171174462	Jul 04, 2010 (132)
31	ILLUMINA	ss173266482	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss207726482	Jul 04, 2010 (132)
33	1000GENOMES	ss233296332	Jul 14, 2010 (132)
34	1000GENOMES	ss240387747	Jul 15, 2010 (132)
35	BL	ss253989447	May 09, 2011 (134)
36	GMI	ss278626751	May 04, 2012 (137)
37	PJP	ss293584969	May 09, 2011 (134)
38	NHLBI-ESP	ss342200120	May 09, 2011 (134)
39	ILLUMINA	ss480517393	May 04, 2012 (137)
40	ILLUMINA	ss480531595	May 04, 2012 (137)
41	ILLUMINA	ss481342158	Sep 08, 2015 (146)
42	ILLUMINA	ss485056057	May 04, 2012 (137)
43	1000GENOMES	ss490918611	May 04, 2012 (137)
44	EXOME_CHIP	ss491377114	May 04, 2012 (137)
45	CLINSEQ_SNP	ss491879937	May 04, 2012 (137)
46	ILLUMINA	ss537072899	Sep 08, 2015 (146)
47	TISHKOFF	ss558958216	Apr 25, 2013 (138)
48	SSMP	ss652870096	Apr 25, 2013 (138)
49	ILLUMINA	ss778699927	Sep 08, 2015 (146)
50	ILLUMINA	ss780845089	Sep 08, 2015 (146)
51	ILLUMINA	ss782974240	Sep 08, 2015 (146)
52	ILLUMINA	ss783528603	Sep 08, 2015 (146)
53	ILLUMINA	ss783935543	Sep 08, 2015 (146)
54	ILLUMINA	ss825458322	Apr 01, 2015 (144)
55	ILLUMINA	ss832230617	Sep 08, 2015 (146)
56	ILLUMINA	ss832890719	Jul 13, 2019 (153)
57	ILLUMINA	ss834158844	Sep 08, 2015 (146)
58	EVA-GONL	ss982515951	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1067474905	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1073329493	Aug 21, 2014 (142)
61	1000GENOMES	ss1318718024	Aug 21, 2014 (142)
62	EVA_GENOME_DK	ss1581504473	Apr 01, 2015 (144)
63	EVA_FINRISK	ss1584043450	Apr 01, 2015 (144)
64	EVA_DECODE	ss1592061576	Apr 01, 2015 (144)
65	EVA_UK10K_ALSPAC	ss1614811429	Apr 01, 2015 (144)
66	EVA_UK10K_TWINSUK	ss1657805462	Apr 01, 2015 (144)
67	EVA_EXAC	ss1688140611	Apr 01, 2015 (144)
68	EVA_MGP	ss1711110344	Apr 01, 2015 (144)
69	EVA_SVP	ss1712829982	Apr 01, 2015 (144)
70	ILLUMINA	ss1752624120	Sep 08, 2015 (146)
71	ILLUMINA	ss1752624121	Sep 08, 2015 (146)
72	ILLUMINA	ss1917798760	Feb 12, 2016 (147)
73	WEILL_CORNELL_DGM	ss1925773218	Feb 12, 2016 (147)
74	ILLUMINA	ss1946165830	Feb 12, 2016 (147)
75	ILLUMINA	ss1946165831	Feb 12, 2016 (147)
76	ILLUMINA	ss1958856900	Feb 12, 2016 (147)
77	ILLUMINA	ss1958856902	Feb 12, 2016 (147)
78	GENOMED	ss1970294353	Jul 19, 2016 (147)
79	JJLAB	ss2023501133	Sep 14, 2016 (149)
80	USC_VALOUEV	ss2151663059	Dec 20, 2016 (150)
81	HUMAN_LONGEVITY	ss2281271980	Dec 20, 2016 (150)
82	SYSTEMSBIOZJU	ss2626238878	Nov 08, 2017 (151)
83	ILLUMINA	ss2634390495	Nov 08, 2017 (151)
84	ILLUMINA	ss2635153055	Nov 08, 2017 (151)
85	GRF	ss2707247775	Nov 08, 2017 (151)
86	ILLUMINA	ss2711058116	Nov 08, 2017 (151)
87	GNOMAD	ss2735511167	Nov 08, 2017 (151)
88	GNOMAD	ss2747538155	Nov 08, 2017 (151)
89	GNOMAD	ss2835087731	Nov 08, 2017 (151)
90	AFFY	ss2985351604	Nov 08, 2017 (151)
91	SWEGEN	ss2998412223	Nov 08, 2017 (151)
92	ILLUMINA	ss3022568424	Nov 08, 2017 (151)
93	ILLUMINA	ss3022568425	Nov 08, 2017 (151)
94	BIOINF_KMB_FNS_UNIBA	ss3025534030	Nov 08, 2017 (151)
95	CSHL	ss3346804509	Nov 08, 2017 (151)
96	ILLUMINA	ss3625892494	Oct 12, 2018 (152)
97	ILLUMINA	ss3629428068	Oct 12, 2018 (152)
98	ILLUMINA	ss3632311132	Oct 12, 2018 (152)
99	ILLUMINA	ss3633403515	Oct 12, 2018 (152)
100	ILLUMINA	ss3634125403	Oct 12, 2018 (152)
101	ILLUMINA	ss3635041095	Oct 12, 2018 (152)
102	ILLUMINA	ss3635041096	Oct 12, 2018 (152)
103	ILLUMINA	ss3635806799	Oct 12, 2018 (152)
104	ILLUMINA	ss3636755469	Oct 12, 2018 (152)
105	ILLUMINA	ss3637559510	Oct 12, 2018 (152)
106	ILLUMINA	ss3638602959	Oct 12, 2018 (152)
107	ILLUMINA	ss3639304056	Oct 12, 2018 (152)
108	ILLUMINA	ss3639676889	Oct 12, 2018 (152)
109	ILLUMINA	ss3640748390	Oct 12, 2018 (152)
110	ILLUMINA	ss3640748391	Oct 12, 2018 (152)
111	ILLUMINA	ss3641190439	Oct 12, 2018 (152)
112	ILLUMINA	ss3641487525	Oct 12, 2018 (152)
113	ILLUMINA	ss3643545155	Oct 12, 2018 (152)
114	ILLUMINA	ss3644898888	Oct 12, 2018 (152)
115	ILLUMINA	ss3644898889	Oct 12, 2018 (152)
116	OMUKHERJEE_ADBS	ss3646330042	Oct 12, 2018 (152)
117	URBANLAB	ss3648253376	Oct 12, 2018 (152)
118	ILLUMINA	ss3653076132	Oct 12, 2018 (152)
119	ILLUMINA	ss3653076133	Oct 12, 2018 (152)
120	ILLUMINA	ss3654119849	Oct 12, 2018 (152)
121	EGCUT_WGS	ss3666335265	Jul 13, 2019 (153)
122	EVA_DECODE	ss3716455004	Jul 13, 2019 (153)
123	ILLUMINA	ss3726304752	Jul 13, 2019 (153)
124	ACPOP	ss3733145465	Jul 13, 2019 (153)
125	ILLUMINA	ss3744265391	Jul 13, 2019 (153)
126	ILLUMINA	ss3744545116	Jul 13, 2019 (153)
127	ILLUMINA	ss3745341219	Jul 13, 2019 (153)
128	ILLUMINA	ss3745341220	Jul 13, 2019 (153)
129	EVA	ss3764532033	Jul 13, 2019 (153)
130	PAGE_CC	ss3771257845	Jul 13, 2019 (153)
131	ILLUMINA	ss3772835048	Jul 13, 2019 (153)
132	ILLUMINA	ss3772835049	Jul 13, 2019 (153)
133	KHV_HUMAN_GENOMES	ss3807692921	Jul 13, 2019 (153)
134	EVA	ss3824151634	Apr 26, 2020 (154)
135	EVA	ss3825688722	Apr 26, 2020 (154)
136	EVA	ss3829696569	Apr 26, 2020 (154)
137	EVA	ss3838322771	Apr 26, 2020 (154)
138	EVA	ss3843762584	Apr 26, 2020 (154)
139	HGDP	ss3847820212	Apr 26, 2020 (154)
140	SGDP_PRJ	ss3863782888	Apr 26, 2020 (154)
141	KRGDB	ss3910516408	Apr 26, 2020 (154)
142	KOGIC	ss3958375465	Apr 26, 2020 (154)
143	FSA-LAB	ss3984327507	Apr 26, 2021 (155)
144	FSA-LAB	ss3984327508	Apr 26, 2021 (155)
145	EVA	ss3985194835	Apr 26, 2021 (155)
146	EVA	ss3986033217	Apr 26, 2021 (155)
147	EVA	ss3986334199	Apr 26, 2021 (155)
148	EVA	ss4017251394	Apr 26, 2021 (155)
149	TOPMED	ss4691574435	Apr 26, 2021 (155)
150	TOMMO_GENOMICS	ss5175874610	Apr 26, 2021 (155)
151	EVA	ss5237019380	Apr 26, 2021 (155)
152	EVA	ss5237645054	Oct 13, 2022 (156)
153	1000G_HIGH_COVERAGE	ss5267175975	Oct 13, 2022 (156)
154	TRAN_CS_UWATERLOO	ss5314414948	Oct 13, 2022 (156)
155	EVA	ss5315116320	Oct 13, 2022 (156)
156	EVA	ss5363402657	Oct 13, 2022 (156)
157	HUGCELL_USP	ss5464990672	Oct 13, 2022 (156)
158	EVA	ss5508328774	Oct 13, 2022 (156)
159	1000G_HIGH_COVERAGE	ss5552497153	Oct 13, 2022 (156)
160	EVA	ss5624153993	Oct 13, 2022 (156)
161	SANFORD_IMAGENETICS	ss5639637793	Oct 13, 2022 (156)
162	TOMMO_GENOMICS	ss5713458494	Oct 13, 2022 (156)
163	EVA	ss5799427290	Oct 13, 2022 (156)
164	EVA	ss5799673830	Oct 13, 2022 (156)
165	EVA	ss5800054970	Oct 13, 2022 (156)
166	EVA	ss5800126834	Oct 13, 2022 (156)
167	YY_MCH	ss5807095243	Oct 13, 2022 (156)
168	EVA	ss5841703765	Oct 13, 2022 (156)
169	EVA	ss5848078526	Oct 13, 2022 (156)
170	EVA	ss5848644348	Oct 13, 2022 (156)
171	EVA	ss5855173833	Oct 13, 2022 (156)
172	EVA	ss5882395806	Oct 13, 2022 (156)
173	EVA	ss5936529364	Oct 13, 2022 (156)
174	EVA	ss5968130784	Oct 13, 2022 (156)
175	1000Genomes	NC_000006.11 - 2955802	Oct 12, 2018 (152)
176	1000Genomes_30x	NC_000006.12 - 2955568	Oct 13, 2022 (156)
177	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2955802	Oct 12, 2018 (152)
178	Genetic variation in the Estonian population	NC_000006.11 - 2955802	Oct 12, 2018 (152)
179	ExAC	NC_000006.11 - 2955802	Oct 12, 2018 (152)
180	FINRISK	NC_000006.11 - 2955802	Apr 26, 2020 (154)
181	The Danish reference pan genome	NC_000006.11 - 2955802	Apr 26, 2020 (154)
182	gnomAD - Genomes	NC_000006.12 - 2955568	Apr 26, 2021 (155)
183	gnomAD - Exomes	NC_000006.11 - 2955802	Jul 13, 2019 (153)
184	GO Exome Sequencing Project	NC_000006.11 - 2955802	Oct 12, 2018 (152)
185	Genome of the Netherlands Release 5	NC_000006.11 - 2955802	Apr 26, 2020 (154)
186	HGDP-CEPH-db Supplement 1	NC_000006.10 - 2900801	Apr 26, 2020 (154)
187	HapMap	NC_000006.12 - 2955568	Apr 26, 2020 (154)
188	KOREAN population from KRGDB	NC_000006.11 - 2955802	Apr 26, 2020 (154)
189	Korean Genome Project	NC_000006.12 - 2955568	Apr 26, 2020 (154)
190	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 2955802	Apr 26, 2020 (154)
191	Northern Sweden	NC_000006.11 - 2955802	Jul 13, 2019 (153)
192	The PAGE Study	NC_000006.12 - 2955568	Jul 13, 2019 (153)
193	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 2955802	Apr 26, 2021 (155)
194	Qatari	NC_000006.11 - 2955802	Apr 26, 2020 (154)
195	SGDP_PRJ	NC_000006.11 - 2955802	Apr 26, 2020 (154)
196	Siberian	NC_000006.11 - 2955802	Apr 26, 2020 (154)
197	8.3KJPN	NC_000006.11 - 2955802	Apr 26, 2021 (155)
198	14KJPN	NC_000006.12 - 2955568	Oct 13, 2022 (156)
199	TopMed	NC_000006.12 - 2955568	Apr 26, 2021 (155)
200	UK 10K study - Twins	NC_000006.11 - 2955802	Oct 12, 2018 (152)
201	A Vietnamese Genetic Variation Database	NC_000006.11 - 2955802	Jul 13, 2019 (153)
202	ALFA	NC_000006.12 - 2955568	Apr 26, 2021 (155)
203	ClinVar	RCV000037108.5	Oct 13, 2022 (156)
204	ClinVar	RCV001807008.2	Oct 13, 2022 (156)
205	ClinVar	RCV002054640.3	Oct 13, 2022 (156)

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)
rs17233203	Oct 08, 2004 (123)
rs17856048	Mar 10, 2006 (126)
rs52804912	Sep 21, 2007 (128)
rs61064774	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78307642, ss3639304056, ss3639676889	NC_000006.9:2900800:T:C	NC_000006.12:2955567:T:C	(self)
498104, ss109699879, ss161966106, ss166030453, ss207726482, ss253989447, ss278626751, ss293584969, ss480517393, ss491879937, ss825458322, ss1592061576, ss1712829982, ss2635153055, ss3643545155, ss3847820212	NC_000006.10:2900800:T:C	NC_000006.12:2955567:T:C	(self)
30450449, 16948599, 12073513, 8157889, 39911, 7669412, 4646323, 609691, 7522902, 17693802, 226104, 6430330, 420762, 7815148, 15799868, 4179413, 33843917, 16948599, 3753725, ss233296332, ss240387747, ss342200120, ss480531595, ss481342158, ss485056057, ss490918611, ss491377114, ss537072899, ss558958216, ss652870096, ss778699927, ss780845089, ss782974240, ss783528603, ss783935543, ss832230617, ss832890719, ss834158844, ss982515951, ss1067474905, ss1073329493, ss1318718024, ss1581504473, ss1584043450, ss1614811429, ss1657805462, ss1688140611, ss1711110344, ss1752624120, ss1752624121, ss1917798760, ss1925773218, ss1946165830, ss1946165831, ss1958856900, ss1958856902, ss1970294353, ss2023501133, ss2151663059, ss2626238878, ss2634390495, ss2707247775, ss2711058116, ss2735511167, ss2747538155, ss2835087731, ss2985351604, ss2998412223, ss3022568424, ss3022568425, ss3346804509, ss3625892494, ss3629428068, ss3632311132, ss3633403515, ss3634125403, ss3635041095, ss3635041096, ss3635806799, ss3636755469, ss3637559510, ss3638602959, ss3640748390, ss3640748391, ss3641190439, ss3641487525, ss3644898888, ss3644898889, ss3646330042, ss3653076132, ss3653076133, ss3654119849, ss3666335265, ss3733145465, ss3744265391, ss3744545116, ss3745341219, ss3745341220, ss3764532033, ss3772835048, ss3772835049, ss3824151634, ss3825688722, ss3829696569, ss3838322771, ss3863782888, ss3910516408, ss3984327507, ss3984327508, ss3985194835, ss3986033217, ss3986334199, ss4017251394, ss5175874610, ss5315116320, ss5363402657, ss5508328774, ss5624153993, ss5639637793, ss5799427290, ss5799673830, ss5800054970, ss5800126834, ss5841703765, ss5848078526, ss5848644348, ss5936529364, ss5968130784	NC_000006.11:2955801:T:C	NC_000006.12:2955567:T:C	(self)
RCV000037108.5, RCV001807008.2, RCV002054640.3, 40023088, 215319701, 3045860, 14753466, 479314, 47295598, 528951993, 6646287809, ss2281271980, ss3025534030, ss3648253376, ss3716455004, ss3726304752, ss3771257845, ss3807692921, ss3843762584, ss3958375465, ss4691574435, ss5237019380, ss5237645054, ss5267175975, ss5314414948, ss5464990672, ss5552497153, ss5713458494, ss5807095243, ss5855173833, ss5882395806	NC_000006.12:2955567:T:C	NC_000006.12:2955567:T:C	(self)
ss3239646, ss16254067, ss24423703, ss28510350, ss48420796, ss66677364, ss67243851, ss67640742, ss68962603, ss70722187, ss71290658, ss74806965, ss75598975, ss79127804, ss84026556, ss86345363, ss98361180, ss120036699, ss121992750, ss143503965, ss153901110, ss156453506, ss159378925, ss159711129, ss160531921, ss171174462, ss173266482	NT_007592.15:2895801:T:C	NC_000006.12:2955567:T:C	(self)

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

2 citations for rs2295769

PMID	Title	Author	Year	Journal
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2295769