Name: rs6581844
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.

rs6581844

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:40620569 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.483566 (127995/264690, TOPMED)
C=0.40994 (11584/28258, 14KJPN)
C=0.40716 (6824/16760, 8.3KJPN) (+ 13 more)
C=0.1964 (1026/5224, ALFA)
G=0.4832 (2420/5008, 1000G)
G=0.4212 (1770/4202, Estonian)
G=0.5000 (1927/3854, ALSPAC)
C=0.5000 (1927/3854, ALSPAC)
C=0.4978 (1846/3708, TWINSUK)
C=0.4122 (1202/2916, KOREAN)
C=0.3655 (666/1822, Korea1K)
C=0.465 (279/600, NorthernSweden)
G=0.294 (110/374, SGDP_PRJ)
C=0.403 (87/216, Qatari)
C=0.353 (73/207, Vietnamese)
G=0.40 (16/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	5224	G=0.8036	A=0.0000, C=0.1964, T=0.0000
European	Sub	4294	G=0.7771	A=0.0000, C=0.2229, T=0.0000
African	Sub	460	G=0.883	A=0.000, C=0.117, T=0.000
African Others	Sub	14	G=0.71	A=0.00, C=0.29, T=0.00
African American	Sub	446	G=0.888	A=0.000, C=0.112, T=0.000
Asian	Sub	38	G=0.95	A=0.00, C=0.05, T=0.00
East Asian	Sub	26	G=0.96	A=0.00, C=0.04, T=0.00
Other Asian	Sub	12	G=0.92	A=0.00, C=0.08, T=0.00
Latin American 1	Sub	48	G=1.00	A=0.00, C=0.00, T=0.00
Latin American 2	Sub	152	G=1.000	A=0.000, C=0.000, T=0.000
South Asian	Sub	42	G=0.98	A=0.00, C=0.02, T=0.00
Other	Sub	190	G=0.937	A=0.000, C=0.063, T=0.000

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	G=0.483566	C=0.516434
14KJPN	JAPANESE	Study-wide	28258	G=0.59006	C=0.40994
8.3KJPN	JAPANESE	Study-wide	16760	G=0.59284	C=0.40716
Allele Frequency Aggregator	Total	Global	5224	G=0.8036	A=0.0000, C=0.1964, T=0.0000
Allele Frequency Aggregator	European	Sub	4294	G=0.7771	A=0.0000, C=0.2229, T=0.0000
Allele Frequency Aggregator	African	Sub	460	G=0.883	A=0.000, C=0.117, T=0.000
Allele Frequency Aggregator	Other	Sub	190	G=0.937	A=0.000, C=0.063, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	152	G=1.000	A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	48	G=1.00	A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	42	G=0.98	A=0.00, C=0.02, T=0.00
Allele Frequency Aggregator	Asian	Sub	38	G=0.95	A=0.00, C=0.05, T=0.00
1000Genomes	Global	Study-wide	5008	G=0.4832	C=0.5168
1000Genomes	African	Sub	1322	G=0.2670	C=0.7330
1000Genomes	East Asian	Sub	1008	G=0.5903	C=0.4097
1000Genomes	Europe	Sub	1006	G=0.4940	C=0.5060
1000Genomes	South Asian	Sub	978	G=0.651	C=0.349
1000Genomes	American	Sub	694	G=0.487	C=0.513
Genetic variation in the Estonian population	Estonian	Study-wide	4202	G=0.4212	C=0.5788
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5000	C=0.5000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.5022	C=0.4978
KOREAN population from KRGDB	KOREAN	Study-wide	2916	G=0.5878	A=0.0000, C=0.4122
Korean Genome Project	KOREAN	Study-wide	1822	G=0.6345	C=0.3655
Northern Sweden	ACPOP	Study-wide	600	G=0.535	C=0.465
SGDP_PRJ	Global	Study-wide	374	G=0.294	C=0.706
Qatari	Global	Study-wide	216	G=0.597	C=0.403
A Vietnamese Genetic Variation Database	Global	Study-wide	207	G=0.647	C=0.353
Siberian	Global	Study-wide	40	G=0.40	C=0.60

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 12	NC_000012.12:g.40620569G>A
GRCh38.p14 chr 12	NC_000012.12:g.40620569G>C
GRCh38.p14 chr 12	NC_000012.12:g.40620569G>T
GRCh37.p13 chr 12	NC_000012.11:g.41014371G>A
GRCh37.p13 chr 12	NC_000012.11:g.41014371G>C
GRCh37.p13 chr 12	NC_000012.11:g.41014371G>T

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.

Not Reported in ClinVar

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	G=	A	C	T
GRCh38.p14 chr 12	NC_000012.12:g.40620569=	NC_000012.12:g.40620569G>A	NC_000012.12:g.40620569G>C	NC_000012.12:g.40620569G>T
GRCh37.p13 chr 12	NC_000012.11:g.41014371=	NC_000012.11:g.41014371G>A	NC_000012.11:g.41014371G>C	NC_000012.11:g.41014371G>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#.

51 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss11040947	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss12213649	Jul 11, 2003 (116)
3	HGSV	ss77737507	Dec 06, 2007 (129)
4	GMI	ss157389457	Dec 01, 2009 (131)
5	COMPLETE_GENOMICS	ss169636553	Jul 04, 2010 (132)
6	BUSHMAN	ss198060542	Jul 04, 2010 (132)
7	BCM-HGSC-SUB	ss208415063	Jul 04, 2010 (132)
8	1000GENOMES	ss225714191	Jul 14, 2010 (132)
9	1000GENOMES	ss235907209	Jul 15, 2010 (132)
10	1000GENOMES	ss242469861	Jul 15, 2010 (132)
11	BL	ss255061238	May 09, 2011 (134)
12	GMI	ss281365411	May 04, 2012 (137)
13	PJP	ss291426219	May 09, 2011 (134)
14	TISHKOFF	ss563121562	Apr 25, 2013 (138)
15	SSMP	ss658667633	Apr 25, 2013 (138)
16	EVA-GONL	ss989454950	Aug 21, 2014 (142)
17	1000GENOMES	ss1344710475	Aug 21, 2014 (142)
18	DDI	ss1426911388	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1628433647	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1671427680	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1807211595	Sep 08, 2015 (146)
22	WEILL_CORNELL_DGM	ss1932818503	Feb 12, 2016 (147)
23	JJLAB	ss2027160105	Sep 14, 2016 (149)
24	USC_VALOUEV	ss2155493540	Dec 20, 2016 (150)
25	HUMAN_LONGEVITY	ss2189157164	Dec 20, 2016 (150)
26	SYSTEMSBIOZJU	ss2628059438	Nov 08, 2017 (151)
27	GRF	ss2699833037	Nov 08, 2017 (151)
28	GNOMAD	ss2909626530	Nov 08, 2017 (151)
29	BIOINF_KMB_FNS_UNIBA	ss3027388352	Nov 08, 2017 (151)
30	CSHL	ss3350029123	Nov 08, 2017 (151)
31	EGCUT_WGS	ss3676834814	Jul 13, 2019 (153)
32	EVA_DECODE	ss3693521335	Jul 13, 2019 (153)
33	ACPOP	ss3738953982	Jul 13, 2019 (153)
34	EVA	ss3750386403	Jul 13, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3815715186	Jul 13, 2019 (153)
36	EVA	ss3833083880	Apr 27, 2020 (154)
37	EVA	ss3840111739	Apr 27, 2020 (154)
38	EVA	ss3845597620	Apr 27, 2020 (154)
39	SGDP_PRJ	ss3878115892	Apr 27, 2020 (154)
40	KRGDB	ss3926722295	Apr 27, 2020 (154)
41	KOGIC	ss3971774693	Apr 27, 2020 (154)
42	TOPMED	ss4915604052	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5205968119	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5290538550	Oct 13, 2022 (156)
45	EVA	ss5405155700	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5485325749	Oct 13, 2022 (156)
47	SANFORD_IMAGENETICS	ss5653001040	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5755655083	Oct 13, 2022 (156)
49	YY_MCH	ss5813230069	Oct 13, 2022 (156)
50	EVA	ss5904086575	Oct 13, 2022 (156)
51	EVA	ss5944358924	Oct 13, 2022 (156)
52	1000Genomes	NC_000012.11 - 41014371	Oct 12, 2018 (152)
53	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 41014371	Oct 12, 2018 (152)
54	Genetic variation in the Estonian population	NC_000012.11 - 41014371	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405101965 (NC_000012.12:40620568:G:A 2/131402) Row 405101966 (NC_000012.12:40620568:G:C 73846/131360) Row 405101967 (NC_000012.12:40620568:G:T 5/131402)	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405101965 (NC_000012.12:40620568:G:A 2/131402) Row 405101966 (NC_000012.12:40620568:G:C 73846/131360) Row 405101967 (NC_000012.12:40620568:G:T 5/131402)	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405101965 (NC_000012.12:40620568:G:A 2/131402) Row 405101966 (NC_000012.12:40620568:G:C 73846/131360) Row 405101967 (NC_000012.12:40620568:G:T 5/131402)	-	Apr 26, 2021 (155)
58	KOREAN population from KRGDB	NC_000012.11 - 41014371	Apr 27, 2020 (154)
59	Korean Genome Project	NC_000012.12 - 40620569	Apr 27, 2020 (154)
60	Northern Sweden	NC_000012.11 - 41014371	Jul 13, 2019 (153)
61	Qatari	NC_000012.11 - 41014371	Apr 27, 2020 (154)
62	SGDP_PRJ	NC_000012.11 - 41014371	Apr 27, 2020 (154)
63	Siberian	NC_000012.11 - 41014371	Apr 27, 2020 (154)
64	8.3KJPN	NC_000012.11 - 41014371	Apr 26, 2021 (155)
65	14KJPN	NC_000012.12 - 40620569	Oct 13, 2022 (156)
66	TopMed	NC_000012.12 - 40620569	Apr 26, 2021 (155)
67	UK 10K study - Twins	NC_000012.11 - 41014371	Oct 12, 2018 (152)
68	A Vietnamese Genetic Variation Database	NC_000012.11 - 41014371	Jul 13, 2019 (153)
69	ALFA	NC_000012.12 - 40620569	Apr 26, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
33899689, ss3926722295	NC_000012.11:41014370:G:A	NC_000012.12:40620568:G:A	(self)
13346982063	NC_000012.12:40620568:G:A	NC_000012.12:40620568:G:A	(self)
ss77737507	NC_000012.9:39300637:G:C	NC_000012.12:40620568:G:C	(self)
ss169636553, ss198060542, ss208415063, ss255061238, ss281365411, ss291426219	NC_000012.10:39300637:G:C	NC_000012.12:40620568:G:C	(self)
57447882, 31901376, 22573062, 33899689, 12238847, 14860433, 30132872, 8009894, 63937426, 31901376, 7080069, ss225714191, ss235907209, ss242469861, ss563121562, ss658667633, ss989454950, ss1344710475, ss1426911388, ss1628433647, ss1671427680, ss1807211595, ss1932818503, ss2027160105, ss2155493540, ss2628059438, ss2699833037, ss2909626530, ss3350029123, ss3676834814, ss3738953982, ss3750386403, ss3833083880, ss3840111739, ss3878115892, ss3926722295, ss5205968119, ss5405155700, ss5653001040, ss5944358924	NC_000012.11:41014370:G:C	NC_000012.12:40620568:G:C	(self)
28152694, 89492187, 131149709, 13346982063, ss2189157164, ss3027388352, ss3693521335, ss3815715186, ss3845597620, ss3971774693, ss4915604052, ss5290538550, ss5485325749, ss5755655083, ss5813230069, ss5904086575	NC_000012.12:40620568:G:C	NC_000012.12:40620568:G:C	(self)
ss11040947, ss12213649	NT_029419.10:3157676:G:C	NC_000012.12:40620568:G:C	(self)
ss157389457	NT_029419.12:3157676:G:C	NC_000012.12:40620568:G:C	(self)
ss2909626530	NC_000012.11:41014370:G:T	NC_000012.12:40620568:G:T	(self)
13346982063, ss2189157164	NC_000012.12:40620568:G:T	NC_000012.12:40620568:G:T	(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 rs6581844

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

rs6581844