Name: rs6909276
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.

rs6909276

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2955203 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.002401 (280/116606, GnomAD)
A=0.00160 (42/26316, 14KJPN)
A=0.00224 (37/16518, 8.3KJPN) (+ 9 more)
A=0.07934 (1197/15087, ALFA)
A=0.3145 (919/2922, KOREAN)
A=0.0077 (14/1816, Korea1K)
A=0.096 (57/596, NorthernSweden)
C=0.500 (124/248, SGDP_PRJ)
A=0.500 (124/248, SGDP_PRJ)
A=0.421 (91/216, Qatari)
C=0.50 (19/38, Siberian)
A=0.50 (19/38, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPINB6 : Intron Variant
Publications: 0 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	15087	C=0.92066	A=0.07934	0.846068	0.003079	0.150854	8
European	Sub	10837	C=0.90689	A=0.09311	0.818399	0.004381	0.17722	7
African	Sub	2816	C=0.9631	A=0.0369	0.926136	0.0	0.073864	1
African Others	Sub	108	C=0.935	A=0.065	0.87037	0.0	0.12963	0
African American	Sub	2708	C=0.9642	A=0.0358	0.92836	0.0	0.07164	1
Asian	Sub	108	C=0.926	A=0.074	0.851852	0.0	0.148148	0
East Asian	Sub	84	C=0.90	A=0.10	0.809524	0.0	0.190476	0
Other Asian	Sub	24	C=1.00	A=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	146	C=0.952	A=0.048	0.90411	0.0	0.09589	0
Latin American 2	Sub	610	C=0.954	A=0.046	0.908197	0.0	0.091803	0
South Asian	Sub	94	C=0.93	A=0.07	0.851064	0.0	0.148936	0
Other	Sub	476	C=0.929	A=0.071	0.85654	0.0	0.14346	1

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
gnomAD - Genomes	Global	Study-wide	116606	C=0.997599	A=0.002401
gnomAD - Genomes	European	Sub	65278	C=0.99671	A=0.00329
gnomAD - Genomes	African	Sub	31994	C=0.99869	A=0.00131
gnomAD - Genomes	American	Sub	11832	C=0.99924	A=0.00076
gnomAD - Genomes	Ashkenazi Jewish	Sub	3006	C=0.9980	A=0.0020
gnomAD - Genomes	East Asian	Sub	2666	C=0.9974	A=0.0026
gnomAD - Genomes	Other	Sub	1830	C=0.9995	A=0.0005
14KJPN	JAPANESE	Study-wide	26316	C=0.99840	A=0.00160
8.3KJPN	JAPANESE	Study-wide	16518	C=0.99776	A=0.00224
Allele Frequency Aggregator	Total	Global	15087	C=0.92066	A=0.07934
Allele Frequency Aggregator	European	Sub	10837	C=0.90689	A=0.09311
Allele Frequency Aggregator	African	Sub	2816	C=0.9631	A=0.0369
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.954	A=0.046
Allele Frequency Aggregator	Other	Sub	476	C=0.929	A=0.071
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.952	A=0.048
Allele Frequency Aggregator	Asian	Sub	108	C=0.926	A=0.074
Allele Frequency Aggregator	South Asian	Sub	94	C=0.93	A=0.07
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.6855	A=0.3145
Korean Genome Project	KOREAN	Study-wide	1816	C=0.9923	A=0.0077
Northern Sweden	ACPOP	Study-wide	596	C=0.904	A=0.096
SGDP_PRJ	Global	Study-wide	248	C=0.500	A=0.500
Qatari	Global	Study-wide	216	C=0.579	A=0.421
Siberian	Global	Study-wide	38	C=0.50	A=0.50

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.2955203C>A
GRCh37.p13 chr 6	NC_000006.11:g.2955437C>A
SERPINB6 RefSeqGene	NG_027692.1:g.21963G>T

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

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINB6 transcript variant 2	NM_001195291.3:c.324+321G… NM_001195291.3:c.324+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.354+321G… NM_001271822.2:c.354+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.369+321G… NM_001271823.2:c.369+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.312+321G… NM_001271824.2:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.312+321G… NM_001271825.2:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.312+321G… NM_001297699.2:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.312+321G… NM_001297700.2:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.324+321G… NM_001374515.1:c.324+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.312+321G… NM_001374516.1:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 11	NM_001374517.1:c.180+321G… NM_001374517.1:c.180+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 1	NM_004568.6:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant 12	NR_164657.1:n.	N/A	Intron Variant
SERPINB6 transcript variant X2	XM_011514672.2:c.546+321G… XM_011514672.2:c.546+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.180+321G… XM_017010941.2:c.180+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.180+321G… XM_024446465.2:c.180+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.546+321G… XM_047418883.1:c.546+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.546+321G… XM_047418884.1:c.546+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.546+321G… XM_047418885.1:c.546+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.546+321G… XM_047418887.1:c.546+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.546+321G… XM_047418888.1:c.546+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.324+321G… XM_047418889.1:c.324+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.324+321G… XM_047418890.1:c.324+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.312+321G… XM_047418891.1:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.312+321G… XM_047418892.1:c.312+321G>T	N/A	Intron Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.180+321G… XM_047418893.1:c.180+321G>T	N/A	Intron 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: A (allele ID: 1169168 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001537444.2	not provided	Likely-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
GRCh38.p14 chr 6	NC_000006.12:g.2955203=	NC_000006.12:g.2955203C>A
GRCh37.p13 chr 6	NC_000006.11:g.2955437=	NC_000006.11:g.2955437C>A
SERPINB6 RefSeqGene	NG_027692.1:g.21963=	NG_027692.1:g.21963G>T
SERPINB6 transcript variant 2	NM_001195291.2:c.324+321=	NM_001195291.2:c.324+321G>T
SERPINB6 transcript variant 2	NM_001195291.3:c.324+321=	NM_001195291.3:c.324+321G>T
SERPINB6 transcript variant 3	NM_001271822.1:c.354+321=	NM_001271822.1:c.354+321G>T
SERPINB6 transcript variant 3	NM_001271822.2:c.354+321=	NM_001271822.2:c.354+321G>T
SERPINB6 transcript variant 4	NM_001271823.1:c.369+321=	NM_001271823.1:c.369+321G>T
SERPINB6 transcript variant 4	NM_001271823.2:c.369+321=	NM_001271823.2:c.369+321G>T
SERPINB6 transcript variant 5	NM_001271824.1:c.312+321=	NM_001271824.1:c.312+321G>T
SERPINB6 transcript variant 5	NM_001271824.2:c.312+321=	NM_001271824.2:c.312+321G>T
SERPINB6 transcript variant 6	NM_001271825.1:c.312+321=	NM_001271825.1:c.312+321G>T
SERPINB6 transcript variant 6	NM_001271825.2:c.312+321=	NM_001271825.2:c.312+321G>T
SERPINB6 transcript variant 7	NM_001297699.2:c.312+321=	NM_001297699.2:c.312+321G>T
SERPINB6 transcript variant 8	NM_001297700.2:c.312+321=	NM_001297700.2:c.312+321G>T
SERPINB6 transcript variant 9	NM_001374515.1:c.324+321=	NM_001374515.1:c.324+321G>T
SERPINB6 transcript variant 10	NM_001374516.1:c.312+321=	NM_001374516.1:c.312+321G>T
SERPINB6 transcript variant 11	NM_001374517.1:c.180+321=	NM_001374517.1:c.180+321G>T
SERPINB6 transcript variant 1	NM_004568.5:c.312+321=	NM_004568.5:c.312+321G>T
SERPINB6 transcript variant 1	NM_004568.6:c.312+321=	NM_004568.6:c.312+321G>T
SERPINB6 transcript variant X1	XM_005249181.1:c.411+321=	XM_005249181.1:c.411+321G>T
SERPINB6 transcript variant X2	XM_005249182.1:c.312+321=	XM_005249182.1:c.312+321G>T
SERPINB6 transcript variant X3	XM_005249183.1:c.45+321=	XM_005249183.1:c.45+321G>T
SERPINB6 transcript variant X2	XM_011514672.2:c.546+321=	XM_011514672.2:c.546+321G>T
SERPINB6 transcript variant X10	XM_017010941.2:c.180+321=	XM_017010941.2:c.180+321G>T
SERPINB6 transcript variant X13	XM_024446465.2:c.180+321=	XM_024446465.2:c.180+321G>T
SERPINB6 transcript variant X1	XM_047418883.1:c.546+321=	XM_047418883.1:c.546+321G>T
SERPINB6 transcript variant X3	XM_047418884.1:c.546+321=	XM_047418884.1:c.546+321G>T
SERPINB6 transcript variant X4	XM_047418885.1:c.546+321=	XM_047418885.1:c.546+321G>T
SERPINB6 transcript variant X5	XM_047418887.1:c.546+321=	XM_047418887.1:c.546+321G>T
SERPINB6 transcript variant X6	XM_047418888.1:c.546+321=	XM_047418888.1:c.546+321G>T
SERPINB6 transcript variant X7	XM_047418889.1:c.324+321=	XM_047418889.1:c.324+321G>T
SERPINB6 transcript variant X11	XM_047418890.1:c.324+321=	XM_047418890.1:c.324+321G>T
SERPINB6 transcript variant X12	XM_047418891.1:c.312+321=	XM_047418891.1:c.312+321G>T
SERPINB6 transcript variant X8	XM_047418892.1:c.312+321=	XM_047418892.1:c.312+321G>T
SERPINB6 transcript variant X9	XM_047418893.1:c.180+321=	XM_047418893.1:c.180+321G>T

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#.

20 SubSNP, 10 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10287932	Jul 11, 2003 (116)
2	SSAHASNP	ss22485260	Apr 05, 2004 (121)
3	SSAHASNP	ss35356287	May 24, 2005 (142)
4	BGI	ss104272736	Dec 01, 2009 (142)
5	BL	ss253989439	May 09, 2011 (142)
6	GMI	ss278626749	May 04, 2012 (142)
7	GMI	ss285327205	Apr 25, 2013 (142)
8	WEILL_CORNELL_DGM	ss1925773213	Feb 12, 2016 (147)
9	USC_VALOUEV	ss2151663057	Dec 20, 2016 (150)
10	GRF	ss2707247773	Nov 08, 2017 (151)
11	BIOINF_KMB_FNS_UNIBA	ss3645928441	Oct 12, 2018 (152)
12	ACPOP	ss3733145460	Jul 13, 2019 (153)
13	EVA	ss3829696568	Apr 26, 2020 (154)
14	SGDP_PRJ	ss3863782883	Apr 26, 2020 (154)
15	KRGDB	ss3910516401	Apr 26, 2020 (154)
16	KOGIC	ss3958375455	Apr 26, 2020 (154)
17	GNOMAD	ss4135864418	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5175874587	Apr 26, 2021 (155)
19	1000G_HIGH_COVERAGE	ss5267175961	Oct 13, 2022 (156)
20	TOMMO_GENOMICS	ss5713458468	Oct 13, 2022 (156)
21	gnomAD - Genomes	NC_000006.12 - 2955203	Apr 26, 2021 (155)
22	KOREAN population from KRGDB	NC_000006.11 - 2955437	Apr 26, 2020 (154)
23	Korean Genome Project	NC_000006.12 - 2955203	Apr 26, 2020 (154)
24	Northern Sweden	NC_000006.11 - 2955437	Jul 13, 2019 (153)
25	Qatari	NC_000006.11 - 2955437	Apr 26, 2020 (154)
26	SGDP_PRJ	NC_000006.11 - 2955437	Apr 26, 2020 (154)
27	Siberian	NC_000006.11 - 2955437	Apr 26, 2020 (154)
28	8.3KJPN	NC_000006.11 - 2955437	Apr 26, 2021 (155)
29	14KJPN	NC_000006.12 - 2955203	Oct 13, 2022 (156)
30	ALFA	NC_000006.12 - 2955203	Apr 26, 2021 (155)
31	ClinVar	RCV001537444.2	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)
rs6931380	Oct 08, 2004 (123)
rs28636075	Aug 21, 2014 (142)
rs34535371	May 23, 2006 (127)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss35356287	NC_000006.9:2900435:C:A	NC_000006.12:2955202:C:A	(self)
ss253989439, ss278626749, ss285327205	NC_000006.10:2900435:C:A	NC_000006.12:2955202:C:A	(self)
17693795, 6430325, 7815143, 15799863, 4179411, 33843894, ss1925773213, ss2151663057, ss2707247773, ss3733145460, ss3829696568, ss3863782883, ss3910516401, ss5175874587	NC_000006.11:2955436:C:A	NC_000006.12:2955202:C:A	(self)
RCV001537444.2, 215319617, 14753456, 47295572, 7585552343, ss3645928441, ss3958375455, ss4135864418, ss5267175961, ss5713458468	NC_000006.12:2955202:C:A	NC_000006.12:2955202:C:A	(self)
ss104272736	NT_007592.15:2895436:C:A	NC_000006.12:2955202:C:A	(self)
ss10287932	NT_034880.2:2895435:C:A	NC_000006.12:2955202:C:A	(self)
ss22485260	NT_034880.3:2895435:C:A	NC_000006.12:2955202:C:A	(self)

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

No publications for rs6909276

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

rs6909276