Name: rs2236277
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.

rs2236277

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2959279 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.302773 (80141/264690, TOPMED)
T=0.348783 (87707/251466, GnomAD_exome)
T=0.328259 (78385/238790, ALFA) (+ 24 more)
T=0.288271 (40362/140014, GnomAD)
T=0.341039 (41396/121382, ExAC)
T=0.49582 (14011/28258, 14KJPN)
T=0.49720 (8333/16760, 8.3KJPN)
T=0.27418 (3566/13006, GO-ESP)
T=0.3359 (2151/6404, 1000G_30x)
T=0.3413 (1709/5008, 1000G)
T=0.3116 (1396/4480, Estonian)
T=0.3160 (1218/3854, ALSPAC)
T=0.2996 (1111/3708, TWINSUK)
T=0.4911 (1439/2930, KOREAN)
T=0.3785 (788/2082, HGDP_Stanford)
T=0.3150 (596/1892, HapMap)
T=0.326 (325/998, GoNL)
C=0.476 (375/788, PRJEB37584)
T=0.466 (287/616, Vietnamese)
T=0.310 (186/600, NorthernSweden)
T=0.384 (205/534, MGP)
C=0.360 (123/342, SGDP_PRJ)
T=0.306 (93/304, FINRISK)
T=0.194 (42/216, Qatari)
T=0.46 (32/70, Ancient Sardinia)
T=0.23 (9/40, GENOME_DK)
C=0.46 (11/24, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPINB6 : Synonymous 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	255230	C=0.675254	T=0.324746	0.458089	0.107581	0.43433	7
European	Sub	214018	C=0.673504	T=0.326496	0.453616	0.106608	0.439776	0
African	Sub	12552	C=0.81557	T=0.18443	0.66826	0.037126	0.294614	2
African Others	Sub	454	C=0.868	T=0.132	0.740088	0.004405	0.255507	2
African American	Sub	12098	C=0.81361	T=0.18639	0.665565	0.038353	0.296082	2
Asian	Sub	758	C=0.459	T=0.541	0.218997	0.300792	0.480211	0
East Asian	Sub	582	C=0.452	T=0.548	0.206186	0.302405	0.491409	0
Other Asian	Sub	176	C=0.483	T=0.517	0.261364	0.295455	0.443182	1
Latin American 1	Sub	1196	C=0.6982	T=0.3018	0.488294	0.091973	0.419732	0
Latin American 2	Sub	6924	C=0.5183	T=0.4817	0.272675	0.235991	0.491334	1
South Asian	Sub	5042	C=0.6559	T=0.3441	0.429988	0.118207	0.451805	0
Other	Sub	14740	C=0.67076	T=0.32924	0.450611	0.109091	0.440299	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
TopMed	Global	Study-wide	264690	C=0.697227	T=0.302773
gnomAD - Exomes	Global	Study-wide	251466	C=0.651217	T=0.348783
gnomAD - Exomes	European	Sub	135392	C=0.687271	T=0.312729
gnomAD - Exomes	Asian	Sub	49006	C=0.60258	T=0.39742
gnomAD - Exomes	American	Sub	34592	C=0.50541	T=0.49459
gnomAD - Exomes	African	Sub	16256	C=0.82609	T=0.17391
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	C=0.62004	T=0.37996
gnomAD - Exomes	Other	Sub	6140	C=0.6541	T=0.3459
Allele Frequency Aggregator	Total	Global	238790	C=0.671741	T=0.328259
Allele Frequency Aggregator	European	Sub	203862	C=0.673156	T=0.326844
Allele Frequency Aggregator	Other	Sub	13288	C=0.66436	T=0.33564
Allele Frequency Aggregator	African	Sub	7720	C=0.8118	T=0.1882
Allele Frequency Aggregator	Latin American 2	Sub	6924	C=0.5183	T=0.4817
Allele Frequency Aggregator	South Asian	Sub	5042	C=0.6559	T=0.3441
Allele Frequency Aggregator	Latin American 1	Sub	1196	C=0.6982	T=0.3018
Allele Frequency Aggregator	Asian	Sub	758	C=0.459	T=0.541
gnomAD - Genomes	Global	Study-wide	140014	C=0.711729	T=0.288271
gnomAD - Genomes	European	Sub	75824	C=0.68551	T=0.31449
gnomAD - Genomes	African	Sub	41956	C=0.81633	T=0.18367
gnomAD - Genomes	American	Sub	13638	C=0.61453	T=0.38547
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.6279	T=0.3721
gnomAD - Genomes	East Asian	Sub	3124	C=0.4872	T=0.5128
gnomAD - Genomes	Other	Sub	2150	C=0.6674	T=0.3326
ExAC	Global	Study-wide	121382	C=0.658961	T=0.341039
ExAC	Europe	Sub	73342	C=0.68062	T=0.31938
ExAC	Asian	Sub	25148	C=0.60995	T=0.39005
ExAC	American	Sub	11578	C=0.48126	T=0.51874
ExAC	African	Sub	10406	C=0.82078	T=0.17922
ExAC	Other	Sub	908	C=0.678	T=0.322
14KJPN	JAPANESE	Study-wide	28258	C=0.50418	T=0.49582
8.3KJPN	JAPANESE	Study-wide	16760	C=0.50280	T=0.49720
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.72582	T=0.27418
GO Exome Sequencing Project	European American	Sub	8600	C=0.6790	T=0.3210
GO Exome Sequencing Project	African American	Sub	4406	C=0.8173	T=0.1827
1000Genomes_30x	Global	Study-wide	6404	C=0.6641	T=0.3359
1000Genomes_30x	African	Sub	1786	C=0.8539	T=0.1461
1000Genomes_30x	Europe	Sub	1266	C=0.6643	T=0.3357
1000Genomes_30x	South Asian	Sub	1202	C=0.6306	T=0.3694
1000Genomes_30x	East Asian	Sub	1170	C=0.5128	T=0.4872
1000Genomes_30x	American	Sub	980	C=0.540	T=0.460
1000Genomes	Global	Study-wide	5008	C=0.6587	T=0.3413
1000Genomes	African	Sub	1322	C=0.8487	T=0.1513
1000Genomes	East Asian	Sub	1008	C=0.5159	T=0.4841
1000Genomes	Europe	Sub	1006	C=0.6620	T=0.3380
1000Genomes	South Asian	Sub	978	C=0.626	T=0.374
1000Genomes	American	Sub	694	C=0.546	T=0.454
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6884	T=0.3116
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6840	T=0.3160
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7004	T=0.2996
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5089	T=0.4911
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.6215	T=0.3785
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.549	T=0.451
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.647	T=0.353
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	C=0.655	T=0.345
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.613	T=0.388
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.835	T=0.165
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.380	T=0.620
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.83	T=0.17
HapMap	Global	Study-wide	1892	C=0.6850	T=0.3150
HapMap	American	Sub	770	C=0.609	T=0.391
HapMap	African	Sub	692	C=0.848	T=0.152
HapMap	Asian	Sub	254	C=0.480	T=0.520
HapMap	Europe	Sub	176	C=0.670	T=0.330
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.674	T=0.326
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.476	T=0.524
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.476	T=0.524
A Vietnamese Genetic Variation Database	Global	Study-wide	616	C=0.534	T=0.466
Northern Sweden	ACPOP	Study-wide	600	C=0.690	T=0.310
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.616	T=0.384
SGDP_PRJ	Global	Study-wide	342	C=0.360	T=0.640
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.694	T=0.306
Qatari	Global	Study-wide	216	C=0.806	T=0.194
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	C=0.54	T=0.46
The Danish reference pan genome	Danish	Study-wide	40	C=0.78	T=0.23
Siberian	Global	Study-wide	24	C=0.46	T=0.54

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.2959279C>T
GRCh37.p13 chr 6	NC_000006.11:g.2959513C>T
SERPINB6 RefSeqGene	NG_027692.1:g.17887G>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINB6 transcript variant 11	NM_001374517.1:c.34-3609G… NM_001374517.1:c.34-3609G>A	N/A	Intron Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform a	NP_001258754.1:p.Thr18=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.96G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform c	NP_001258751.1:p.Thr32=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform a	NP_001361445.1:p.Thr18=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.66G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform b	NP_001361444.1:p.Thr22=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform a	NP_001284629.1:p.Thr18=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform a	NP_001284628.1:p.Thr18=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 2	NM_001195291.3:c.66G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform b	NP_001182220.2:p.Thr22=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.111G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform d	NP_001258752.1:p.Thr37=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 1	NM_004568.6:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform a	NP_004559.4:p.Thr18=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform a	NP_001258753.1:p.Thr18=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant 12	NR_164657.1:n.99G>A	N/A	Non Coding Transcript Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.34-3609G… XM_017010941.2:c.34-3609G>A	N/A	Intron Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.34-3609G… XM_024446465.2:c.34-3609G>A	N/A	Intron Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.34-3609G… XM_047418893.1:c.34-3609G>A	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.288G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274839.1:p.Thr96=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X2	XM_011514672.2:c.288G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X1	XP_011512974.1:p.Thr96=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.288G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274840.1:p.Thr96=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.288G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274841.1:p.Thr96=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.288G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274843.1:p.Thr96=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.288G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X1	XP_047274844.1:p.Thr96=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.66G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X2	XP_047274845.1:p.Thr22=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.66G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X5	XP_047274846.1:p.Thr22=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X3	XP_047274847.1:p.Thr18=	T (Thr) > T (Thr)	Synonymous Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.54G>A	T [ACG] > T [ACA]	Coding Sequence Variant
serpin B6 isoform X3	XP_047274848.1:p.Thr18=	T (Thr) > T (Thr)	Synonymous 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: 53303 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000037111.6	not specified	Benign
RCV001807009.2	Autosomal recessive nonsyndromic hearing loss 91	Benign
RCV002054641.3	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	C=	T
GRCh38.p14 chr 6	NC_000006.12:g.2959279=	NC_000006.12:g.2959279C>T
GRCh37.p13 chr 6	NC_000006.11:g.2959513=	NC_000006.11:g.2959513C>T
SERPINB6 RefSeqGene	NG_027692.1:g.17887=	NG_027692.1:g.17887G>A
SERPINB6 transcript variant 1	NM_004568.6:c.54=	NM_004568.6:c.54G>A
SERPINB6 transcript variant 1	NM_004568.5:c.54=	NM_004568.5:c.54G>A
SERPINB6 transcript variant 2	NM_001195291.3:c.66=	NM_001195291.3:c.66G>A
SERPINB6 transcript variant 2	NM_001195291.2:c.66=	NM_001195291.2:c.66G>A
SERPINB6 transcript variant 4	NM_001271823.2:c.111=	NM_001271823.2:c.111G>A
SERPINB6 transcript variant 4	NM_001271823.1:c.111=	NM_001271823.1:c.111G>A
SERPINB6 transcript variant 3	NM_001271822.2:c.96=	NM_001271822.2:c.96G>A
SERPINB6 transcript variant 3	NM_001271822.1:c.96=	NM_001271822.1:c.96G>A
SERPINB6 transcript variant 7	NM_001297699.2:c.54=	NM_001297699.2:c.54G>A
SERPINB6 transcript variant 7	NM_001297699.1:c.54=	NM_001297699.1:c.54G>A
SERPINB6 transcript variant 6	NM_001271825.2:c.54=	NM_001271825.2:c.54G>A
SERPINB6 transcript variant 6	NM_001271825.1:c.54=	NM_001271825.1:c.54G>A
SERPINB6 transcript variant 8	NM_001297700.2:c.54=	NM_001297700.2:c.54G>A
SERPINB6 transcript variant 8	NM_001297700.1:c.54=	NM_001297700.1:c.54G>A
SERPINB6 transcript variant 5	NM_001271824.2:c.54=	NM_001271824.2:c.54G>A
SERPINB6 transcript variant 5	NM_001271824.1:c.54=	NM_001271824.1:c.54G>A
SERPINB6 transcript variant 9	NM_001374515.1:c.66=	NM_001374515.1:c.66G>A
SERPINB6 transcript variant 12	NR_164657.1:n.99=	NR_164657.1:n.99G>A
SERPINB6 transcript variant 10	NM_001374516.1:c.54=	NM_001374516.1:c.54G>A
SERPINB6 transcript variant X2	XM_011514672.2:c.288=	XM_011514672.2:c.288G>A
SERPINB6 transcript variant X1	XM_011514672.1:c.288=	XM_011514672.1:c.288G>A
SERPINB6 transcript variant X1	XM_047418883.1:c.288=	XM_047418883.1:c.288G>A
SERPINB6 transcript variant X7	XM_047418889.1:c.66=	XM_047418889.1:c.66G>A
SERPINB6 transcript variant X11	XM_047418890.1:c.66=	XM_047418890.1:c.66G>A
SERPINB6 transcript variant X12	XM_047418891.1:c.54=	XM_047418891.1:c.54G>A
SERPINB6 transcript variant X3	XM_047418884.1:c.288=	XM_047418884.1:c.288G>A
SERPINB6 transcript variant X5	XM_047418887.1:c.288=	XM_047418887.1:c.288G>A
SERPINB6 transcript variant X4	XM_047418885.1:c.288=	XM_047418885.1:c.288G>A
SERPINB6 transcript variant X8	XM_047418892.1:c.54=	XM_047418892.1:c.54G>A
SERPINB6 transcript variant X6	XM_047418888.1:c.288=	XM_047418888.1:c.288G>A
serpin B6 isoform a	NP_004559.4:p.Thr18=	NP_004559.4:p.Thr18=
serpin B6 isoform b	NP_001182220.2:p.Thr22=	NP_001182220.2:p.Thr22=
serpin B6 isoform d	NP_001258752.1:p.Thr37=	NP_001258752.1:p.Thr37=
serpin B6 isoform c	NP_001258751.1:p.Thr32=	NP_001258751.1:p.Thr32=
serpin B6 isoform a	NP_001284628.1:p.Thr18=	NP_001284628.1:p.Thr18=
serpin B6 isoform a	NP_001258754.1:p.Thr18=	NP_001258754.1:p.Thr18=
serpin B6 isoform a	NP_001284629.1:p.Thr18=	NP_001284629.1:p.Thr18=
serpin B6 isoform a	NP_001258753.1:p.Thr18=	NP_001258753.1:p.Thr18=
serpin B6 isoform b	NP_001361444.1:p.Thr22=	NP_001361444.1:p.Thr22=
serpin B6 isoform a	NP_001361445.1:p.Thr18=	NP_001361445.1:p.Thr18=
serpin B6 isoform X1	XP_011512974.1:p.Thr96=	XP_011512974.1:p.Thr96=
serpin B6 isoform X1	XP_047274839.1:p.Thr96=	XP_047274839.1:p.Thr96=
serpin B6 isoform X2	XP_047274845.1:p.Thr22=	XP_047274845.1:p.Thr22=
serpin B6 isoform X5	XP_047274846.1:p.Thr22=	XP_047274846.1:p.Thr22=
serpin B6 isoform X3	XP_047274847.1:p.Thr18=	XP_047274847.1:p.Thr18=
serpin B6 isoform X1	XP_047274840.1:p.Thr96=	XP_047274840.1:p.Thr96=
serpin B6 isoform X1	XP_047274843.1:p.Thr96=	XP_047274843.1:p.Thr96=
serpin B6 isoform X1	XP_047274841.1:p.Thr96=	XP_047274841.1:p.Thr96=
serpin B6 isoform X3	XP_047274848.1:p.Thr18=	XP_047274848.1:p.Thr18=
serpin B6 isoform X1	XP_047274844.1:p.Thr96=	XP_047274844.1:p.Thr96=
SERPINB6 transcript variant 11	NM_001374517.1:c.34-3609=	NM_001374517.1:c.34-3609G>A
SERPINB6 transcript variant X10	XM_017010941.2:c.34-3609=	XM_017010941.2:c.34-3609G>A
SERPINB6 transcript variant X13	XM_024446465.2:c.34-3609=	XM_024446465.2:c.34-3609G>A
SERPINB6 transcript variant X9	XM_047418893.1:c.34-3609=	XM_047418893.1:c.34-3609G>A

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#.

151 SubSNP, 27 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3190606	Aug 15, 2001 (98)
2	SC_SNP	ss12890212	Dec 05, 2003 (119)
3	SC_SNP	ss15747439	Feb 27, 2004 (120)
4	CGAP-GAI	ss16254068	Feb 27, 2004 (120)
5	PERLEGEN	ss23984592	Sep 20, 2004 (123)
6	ABI	ss44736680	Mar 13, 2006 (126)
7	APPLERA_GI	ss48429866	Mar 13, 2006 (126)
8	ILLUMINA	ss66676651	Nov 29, 2006 (127)
9	ILLUMINA	ss67235986	Nov 29, 2006 (127)
10	ILLUMINA	ss67632159	Nov 29, 2006 (127)
11	PERLEGEN	ss68962606	May 16, 2007 (127)
12	ILLUMINA	ss70714312	May 25, 2008 (130)
13	ILLUMINA	ss71282068	May 16, 2007 (127)
14	ILLUMINA	ss75593920	Dec 07, 2007 (129)
15	SI_EXO	ss76886068	Dec 07, 2007 (129)
16	ILLUMINA	ss79122016	Dec 15, 2007 (130)
17	HGSV	ss81307872	Dec 15, 2007 (130)
18	KRIBB_YJKIM	ss84003101	Dec 15, 2007 (130)
19	HGSV	ss84884104	Dec 15, 2007 (130)
20	CANCER-GENOME	ss86345364	Mar 23, 2008 (129)
21	BGI	ss105975403	Feb 05, 2009 (130)
22	1000GENOMES	ss109699941	Jan 24, 2009 (130)
23	ILLUMINA-UK	ss116272665	Feb 14, 2009 (130)
24	ILLUMINA	ss121958926	Dec 01, 2009 (131)
25	ILLUMINA	ss153889601	Dec 01, 2009 (131)
26	ILLUMINA	ss159370572	Dec 01, 2009 (131)
27	SEATTLESEQ	ss159711130	Dec 01, 2009 (131)
28	ILLUMINA	ss160518828	Dec 01, 2009 (131)
29	COMPLETE_GENOMICS	ss161966200	Jul 04, 2010 (132)
30	ILLUMINA	ss171108022	Jul 04, 2010 (132)
31	ILLUMINA	ss173200218	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss207436337	Jul 04, 2010 (132)
33	1000GENOMES	ss211773736	Jul 14, 2010 (132)
34	1000GENOMES	ss222170916	Jul 14, 2010 (132)
35	1000GENOMES	ss233296352	Jul 14, 2010 (132)
36	1000GENOMES	ss240387769	Jul 15, 2010 (132)
37	GMI	ss278626773	May 04, 2012 (137)
38	GMI	ss285327212	Apr 25, 2013 (138)
39	NHLBI-ESP	ss342200131	May 09, 2011 (134)
40	ILLUMINA	ss480475972	May 04, 2012 (137)
41	ILLUMINA	ss480490331	May 04, 2012 (137)
42	ILLUMINA	ss481289654	Sep 08, 2015 (146)
43	ILLUMINA	ss485035472	May 04, 2012 (137)
44	1000GENOMES	ss490918614	May 04, 2012 (137)
45	CLINSEQ_SNP	ss491879938	May 04, 2012 (137)
46	ILLUMINA	ss537058857	Sep 08, 2015 (146)
47	TISHKOFF	ss558958242	Apr 25, 2013 (138)
48	SSMP	ss652870126	Apr 25, 2013 (138)
49	ILLUMINA	ss778699455	Sep 08, 2015 (146)
50	ILLUMINA	ss782963979	Sep 08, 2015 (146)
51	ILLUMINA	ss783925910	Sep 08, 2015 (146)
52	ILLUMINA	ss825452534	Apr 01, 2015 (144)
53	ILLUMINA	ss832220229	Sep 08, 2015 (146)
54	ILLUMINA	ss832882398	Jul 13, 2019 (153)
55	ILLUMINA	ss834158362	Sep 08, 2015 (146)
56	JMKIDD_LAB	ss974458666	Aug 21, 2014 (142)
57	EVA-GONL	ss982515990	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1067474908	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1073329528	Aug 21, 2014 (142)
60	1000GENOMES	ss1318718147	Aug 21, 2014 (142)
61	DDI	ss1430616185	Apr 01, 2015 (144)
62	EVA_GENOME_DK	ss1581504495	Apr 01, 2015 (144)
63	EVA_FINRISK	ss1584043452	Apr 01, 2015 (144)
64	EVA_DECODE	ss1592061615	Apr 01, 2015 (144)
65	EVA_UK10K_ALSPAC	ss1614811495	Apr 01, 2015 (144)
66	EVA_UK10K_TWINSUK	ss1657805528	Apr 01, 2015 (144)
67	EVA_EXAC	ss1688140676	Apr 01, 2015 (144)
68	EVA_MGP	ss1711110347	Apr 01, 2015 (144)
69	EVA_SVP	ss1712829990	Apr 01, 2015 (144)
70	ILLUMINA	ss1752624181	Sep 08, 2015 (146)
71	HAMMER_LAB	ss1804248902	Sep 08, 2015 (146)
72	WEILL_CORNELL_DGM	ss1925773255	Feb 12, 2016 (147)
73	GENOMED	ss1970294374	Jul 19, 2016 (147)
74	JJLAB	ss2023501160	Sep 14, 2016 (149)
75	USC_VALOUEV	ss2151663086	Dec 20, 2016 (150)
76	HUMAN_LONGEVITY	ss2281272241	Dec 20, 2016 (150)
77	SYSTEMSBIOZJU	ss2626238898	Nov 08, 2017 (151)
78	ILLUMINA	ss2634390501	Nov 08, 2017 (151)
79	GRF	ss2707247802	Nov 08, 2017 (151)
80	GNOMAD	ss2735511254	Nov 08, 2017 (151)
81	GNOMAD	ss2747538180	Nov 08, 2017 (151)
82	GNOMAD	ss2835088044	Nov 08, 2017 (151)
83	AFFY	ss2985351607	Nov 08, 2017 (151)
84	SWEGEN	ss2998412273	Nov 08, 2017 (151)
85	EVA_SAMSUNG_MC	ss3023061746	Nov 08, 2017 (151)
86	BIOINF_KMB_FNS_UNIBA	ss3025534051	Nov 08, 2017 (151)
87	CSHL	ss3346804534	Nov 08, 2017 (151)
88	ILLUMINA	ss3629428076	Oct 12, 2018 (152)
89	ILLUMINA	ss3632311138	Oct 12, 2018 (152)
90	ILLUMINA	ss3633403518	Oct 12, 2018 (152)
91	ILLUMINA	ss3634125407	Oct 12, 2018 (152)
92	ILLUMINA	ss3635041102	Oct 12, 2018 (152)
93	ILLUMINA	ss3635806803	Oct 12, 2018 (152)
94	ILLUMINA	ss3636755472	Oct 12, 2018 (152)
95	ILLUMINA	ss3637559514	Oct 12, 2018 (152)
96	ILLUMINA	ss3638602962	Oct 12, 2018 (152)
97	ILLUMINA	ss3639304058	Oct 12, 2018 (152)
98	ILLUMINA	ss3639676890	Oct 12, 2018 (152)
99	ILLUMINA	ss3640748397	Oct 12, 2018 (152)
100	ILLUMINA	ss3643545158	Oct 12, 2018 (152)
101	OMUKHERJEE_ADBS	ss3646330043	Oct 12, 2018 (152)
102	ILLUMINA	ss3654119852	Oct 12, 2018 (152)
103	EGCUT_WGS	ss3666335323	Jul 13, 2019 (153)
104	EVA_DECODE	ss3716455060	Jul 13, 2019 (153)
105	ACPOP	ss3733145502	Jul 13, 2019 (153)
106	ILLUMINA	ss3745341226	Jul 13, 2019 (153)
107	EVA	ss3764532085	Jul 13, 2019 (153)
108	ILLUMINA	ss3772835055	Jul 13, 2019 (153)
109	PACBIO	ss3785353815	Jul 13, 2019 (153)
110	PACBIO	ss3790721920	Jul 13, 2019 (153)
111	PACBIO	ss3795599077	Jul 13, 2019 (153)
112	KHV_HUMAN_GENOMES	ss3807692966	Jul 13, 2019 (153)
113	EVA	ss3824151652	Apr 26, 2020 (154)
114	EVA	ss3825522994	Apr 26, 2020 (154)
115	EVA	ss3825539067	Apr 26, 2020 (154)
116	EVA	ss3825688725	Apr 26, 2020 (154)
117	EVA	ss3829696594	Apr 26, 2020 (154)
118	HGDP	ss3847820215	Apr 26, 2020 (154)
119	SGDP_PRJ	ss3863782963	Apr 26, 2020 (154)
120	KRGDB	ss3910516487	Apr 26, 2020 (154)
121	FSA-LAB	ss3984327510	Apr 26, 2021 (155)
122	FSA-LAB	ss3984327511	Apr 26, 2021 (155)
123	EVA	ss3984560382	Apr 26, 2021 (155)
124	EVA	ss3985194840	Apr 26, 2021 (155)
125	EVA	ss3986033218	Apr 26, 2021 (155)
126	EVA	ss3986334202	Apr 26, 2021 (155)
127	EVA	ss4017251399	Apr 26, 2021 (155)
128	TOPMED	ss4691575380	Apr 26, 2021 (155)
129	TOMMO_GENOMICS	ss5175874753	Apr 26, 2021 (155)
130	EVA	ss5237019381	Apr 26, 2021 (155)
131	EVA	ss5237645055	Oct 13, 2022 (156)
132	1000G_HIGH_COVERAGE	ss5267176077	Oct 13, 2022 (156)
133	TRAN_CS_UWATERLOO	ss5314414949	Oct 13, 2022 (156)
134	EVA	ss5315116325	Oct 13, 2022 (156)
135	EVA	ss5363402840	Oct 13, 2022 (156)
136	HUGCELL_USP	ss5464990765	Oct 13, 2022 (156)
137	EVA	ss5508328782	Oct 13, 2022 (156)
138	1000G_HIGH_COVERAGE	ss5552497304	Oct 13, 2022 (156)
139	EVA	ss5624153994	Oct 13, 2022 (156)
140	SANFORD_IMAGENETICS	ss5639637861	Oct 13, 2022 (156)
141	TOMMO_GENOMICS	ss5713458671	Oct 13, 2022 (156)
142	EVA	ss5799427291	Oct 13, 2022 (156)
143	EVA	ss5799673833	Oct 13, 2022 (156)
144	YY_MCH	ss5807095278	Oct 13, 2022 (156)
145	EVA	ss5841703807	Oct 13, 2022 (156)
146	EVA	ss5848644349	Oct 13, 2022 (156)
147	EVA	ss5855173857	Oct 13, 2022 (156)
148	EVA	ss5882395926	Oct 13, 2022 (156)
149	EVA	ss5936529365	Oct 13, 2022 (156)
150	EVA	ss5968130856	Oct 13, 2022 (156)
151	EVA	ss5981232716	Oct 13, 2022 (156)
152	1000Genomes	NC_000006.11 - 2959513	Oct 12, 2018 (152)
153	1000Genomes_30x	NC_000006.12 - 2959279	Oct 13, 2022 (156)
154	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2959513	Oct 12, 2018 (152)
155	Genetic variation in the Estonian population	NC_000006.11 - 2959513	Oct 12, 2018 (152)
156	ExAC	NC_000006.11 - 2959513	Oct 12, 2018 (152)
157	FINRISK	NC_000006.11 - 2959513	Apr 26, 2020 (154)
158	The Danish reference pan genome	NC_000006.11 - 2959513	Apr 26, 2020 (154)
159	gnomAD - Genomes	NC_000006.12 - 2959279	Apr 26, 2021 (155)
160	gnomAD - Exomes	NC_000006.11 - 2959513	Jul 13, 2019 (153)
161	GO Exome Sequencing Project	NC_000006.11 - 2959513	Oct 12, 2018 (152)
162	Genome of the Netherlands Release 5	NC_000006.11 - 2959513	Apr 26, 2020 (154)
163	HGDP-CEPH-db Supplement 1	NC_000006.10 - 2904512	Apr 26, 2020 (154)
164	HapMap	NC_000006.12 - 2959279	Apr 26, 2020 (154)
165	KOREAN population from KRGDB	NC_000006.11 - 2959513	Apr 26, 2020 (154)
166	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 2959513	Apr 26, 2020 (154)
167	Northern Sweden	NC_000006.11 - 2959513	Jul 13, 2019 (153)
168	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 2959513	Apr 26, 2021 (155)
169	CNV burdens in cranial meningiomas	NC_000006.11 - 2959513	Apr 26, 2021 (155)
170	Qatari	NC_000006.11 - 2959513	Apr 26, 2020 (154)
171	SGDP_PRJ	NC_000006.11 - 2959513	Apr 26, 2020 (154)
172	Siberian	NC_000006.11 - 2959513	Apr 26, 2020 (154)
173	8.3KJPN	NC_000006.11 - 2959513	Apr 26, 2021 (155)
174	14KJPN	NC_000006.12 - 2959279	Oct 13, 2022 (156)
175	TopMed	NC_000006.12 - 2959279	Apr 26, 2021 (155)
176	UK 10K study - Twins	NC_000006.11 - 2959513	Oct 12, 2018 (152)
177	A Vietnamese Genetic Variation Database	NC_000006.11 - 2959513	Jul 13, 2019 (153)
178	ALFA	NC_000006.12 - 2959279	Apr 26, 2021 (155)
179	ClinVar	RCV000037111.6	Oct 13, 2022 (156)
180	ClinVar	RCV001807009.2	Oct 13, 2022 (156)
181	ClinVar	RCV002054641.3	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)
rs59298149	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81307872, ss84884104, ss3639304058, ss3639676890	NC_000006.9:2904511:C:T	NC_000006.12:2959278:C:T	(self)
498107, ss109699941, ss116272665, ss161966200, ss207436337, ss211773736, ss278626773, ss285327212, ss480475972, ss491879938, ss825452534, ss1592061615, ss1712829990, ss3643545158, ss3847820215	NC_000006.10:2904511:C:T	NC_000006.12:2959278:C:T	(self)
30450576, 16948670, 12073571, 8157958, 39913, 7669434, 4646417, 609709, 7522941, 17693881, 226107, 6430367, 420767, 109757, 7815185, 15799943, 4179440, 33844060, 16948670, 3753747, ss222170916, ss233296352, ss240387769, ss342200131, ss480490331, ss481289654, ss485035472, ss490918614, ss537058857, ss558958242, ss652870126, ss778699455, ss782963979, ss783925910, ss832220229, ss832882398, ss834158362, ss974458666, ss982515990, ss1067474908, ss1073329528, ss1318718147, ss1430616185, ss1581504495, ss1584043452, ss1614811495, ss1657805528, ss1688140676, ss1711110347, ss1752624181, ss1804248902, ss1925773255, ss1970294374, ss2023501160, ss2151663086, ss2626238898, ss2634390501, ss2707247802, ss2735511254, ss2747538180, ss2835088044, ss2985351607, ss2998412273, ss3023061746, ss3346804534, ss3629428076, ss3632311138, ss3633403518, ss3634125407, ss3635041102, ss3635806803, ss3636755472, ss3637559514, ss3638602962, ss3640748397, ss3646330043, ss3654119852, ss3666335323, ss3733145502, ss3745341226, ss3764532085, ss3772835055, ss3785353815, ss3790721920, ss3795599077, ss3824151652, ss3825522994, ss3825539067, ss3825688725, ss3829696594, ss3863782963, ss3910516487, ss3984327510, ss3984327511, ss3984560382, ss3985194840, ss3986033218, ss3986334202, ss4017251399, ss5175874753, ss5315116325, ss5363402840, ss5508328782, ss5624153994, ss5639637861, ss5799427291, ss5799673833, ss5841703807, ss5848644349, ss5936529365, ss5968130856, ss5981232716	NC_000006.11:2959512:C:T	NC_000006.12:2959278:C:T	(self)
RCV000037111.6, RCV001807009.2, RCV002054641.3, 40023239, 215320472, 3045873, 47295775, 528952938, 8596380972, ss2281272241, ss3025534051, ss3716455060, ss3807692966, ss4691575380, ss5237019381, ss5237645055, ss5267176077, ss5314414949, ss5464990765, ss5552497304, ss5713458671, ss5807095278, ss5855173857, ss5882395926	NC_000006.12:2959278:C:T	NC_000006.12:2959278:C:T	(self)
ss3190606, ss16254068, ss23984592, ss44736680, ss48429866, ss66676651, ss67235986, ss67632159, ss68962606, ss70714312, ss71282068, ss75593920, ss79122016, ss84003101, ss86345364, ss105975403, ss121958926, ss153889601, ss159370572, ss159711130, ss160518828, ss171108022, ss173200218	NT_007592.15:2899512:C:T	NC_000006.12:2959278:C:T	(self)
ss12890212	NT_034880.2:2899511:C:T	NC_000006.12:2959278:C:T	(self)
ss15747439, ss76886068	NT_034880.3:2899511:C:T	NC_000006.12:2959278:C:T	(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 rs2236277

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2236277