Name: rs6681391
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.

rs6681391

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:154633397 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.313385 (82950/264690, TOPMED)
T=0.327381 (44990/137424, GnomAD)
T=0.28688 (8106/28256, 14KJPN) (+ 16 more)
T=0.29105 (4878/16760, 8.3KJPN)
T=0.17560 (2175/12386, ALFA)
T=0.3106 (1989/6404, 1000G_30x)
T=0.3101 (1553/5008, 1000G)
T=0.2902 (1300/4480, Estonian)
T=0.3443 (1327/3854, ALSPAC)
T=0.3368 (1249/3708, TWINSUK)
T=0.3137 (919/2930, KOREAN)
T=0.3204 (587/1832, Korea1K)
T=0.343 (342/998, GoNL)
T=0.398 (239/600, NorthernSweden)
C=0.346 (101/292, SGDP_PRJ)
T=0.361 (78/216, Qatari)
T=0.302 (64/212, Vietnamese)
T=0.40 (16/40, GENOME_DK)
C=0.36 (13/36, 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	12386	C=0.82440	A=0.00000, T=0.17560
European	Sub	9794	C=0.7879	A=0.0000, T=0.2121
African	Sub	1566	C=0.9757	A=0.0000, T=0.0243
African Others	Sub	58	C=0.97	A=0.00, T=0.03
African American	Sub	1508	C=0.9761	A=0.0000, T=0.0239
Asian	Sub	46	C=1.00	A=0.00, T=0.00
East Asian	Sub	32	C=1.00	A=0.00, T=0.00
Other Asian	Sub	14	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	80	C=1.00	A=0.00, T=0.00
Latin American 2	Sub	390	C=1.000	A=0.000, T=0.000
South Asian	Sub	60	C=1.00	A=0.00, T=0.00
Other	Sub	450	C=0.867	A=0.000, T=0.133

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=0.686615	T=0.313385
gnomAD - Genomes	Global	Study-wide	137424	C=0.672619	T=0.327381
gnomAD - Genomes	European	Sub	74686	C=0.64742	T=0.35258
gnomAD - Genomes	African	Sub	41040	C=0.70546	T=0.29454
gnomAD - Genomes	American	Sub	13250	C=0.71834	T=0.28166
gnomAD - Genomes	Ashkenazi Jewish	Sub	3278	C=0.6486	T=0.3514
gnomAD - Genomes	East Asian	Sub	3050	C=0.6761	T=0.3239
gnomAD - Genomes	Other	Sub	2120	C=0.6712	T=0.3288
14KJPN	JAPANESE	Study-wide	28256	C=0.71312	T=0.28688
8.3KJPN	JAPANESE	Study-wide	16760	C=0.70895	T=0.29105
Allele Frequency Aggregator	Total	Global	12386	C=0.82440	A=0.00000, T=0.17560
Allele Frequency Aggregator	European	Sub	9794	C=0.7879	A=0.0000, T=0.2121
Allele Frequency Aggregator	African	Sub	1566	C=0.9757	A=0.0000, T=0.0243
Allele Frequency Aggregator	Other	Sub	450	C=0.867	A=0.000, T=0.133
Allele Frequency Aggregator	Latin American 2	Sub	390	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	80	C=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	60	C=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	46	C=1.00	A=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.6894	T=0.3106
1000Genomes_30x	African	Sub	1786	C=0.7324	T=0.2676
1000Genomes_30x	Europe	Sub	1266	C=0.6106	T=0.3894
1000Genomes_30x	South Asian	Sub	1202	C=0.7171	T=0.2829
1000Genomes_30x	East Asian	Sub	1170	C=0.6402	T=0.3598
1000Genomes_30x	American	Sub	980	C=0.738	T=0.262
1000Genomes	Global	Study-wide	5008	C=0.6899	T=0.3101
1000Genomes	African	Sub	1322	C=0.7300	T=0.2700
1000Genomes	East Asian	Sub	1008	C=0.6438	T=0.3562
1000Genomes	Europe	Sub	1006	C=0.6153	T=0.3847
1000Genomes	South Asian	Sub	978	C=0.718	T=0.282
1000Genomes	American	Sub	694	C=0.749	T=0.251
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7098	T=0.2902
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6557	T=0.3443
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6632	T=0.3368
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6863	T=0.3137
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6796	T=0.3204
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.657	T=0.343
Northern Sweden	ACPOP	Study-wide	600	C=0.602	T=0.398
SGDP_PRJ	Global	Study-wide	292	C=0.346	T=0.654
Qatari	Global	Study-wide	216	C=0.639	T=0.361
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.698	T=0.302
The Danish reference pan genome	Danish	Study-wide	40	C=0.60	T=0.40
Siberian	Global	Study-wide	36	C=0.36	T=0.64

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 1	NC_000001.11:g.154633397C>A
GRCh38.p14 chr 1	NC_000001.11:g.154633397C>T
GRCh37.p13 chr 1	NC_000001.10:g.154605873C>A
GRCh37.p13 chr 1	NC_000001.10:g.154605873C>T
ADAR RefSeqGene (LRG_1212)	NG_011844.2:g.3164G>T
ADAR RefSeqGene (LRG_1212)	NG_011844.2:g.3164G>A

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	C=	A	T
GRCh38.p14 chr 1	NC_000001.11:g.154633397=	NC_000001.11:g.154633397C>A	NC_000001.11:g.154633397C>T
GRCh37.p13 chr 1	NC_000001.10:g.154605873=	NC_000001.10:g.154605873C>A	NC_000001.10:g.154605873C>T
ADAR RefSeqGene (LRG_1212)	NG_011844.2:g.3164=	NG_011844.2:g.3164G>T	NG_011844.2:g.3164G>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#.

55 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss9859256	Jul 11, 2003 (116)
2	ABI	ss41343159	Mar 15, 2006 (126)
3	HUMANGENOME_JCVI	ss99251176	Feb 06, 2009 (130)
4	ENSEMBL	ss139210539	Dec 01, 2009 (131)
5	GMI	ss155753268	Dec 01, 2009 (131)
6	1000GENOMES	ss230732077	Jul 14, 2010 (132)
7	1000GENOMES	ss238379963	Jul 15, 2010 (132)
8	BL	ss253509546	May 09, 2011 (134)
9	GMI	ss276051374	May 04, 2012 (137)
10	GMI	ss284152728	Apr 25, 2013 (138)
11	PJP	ss290637161	May 09, 2011 (134)
12	SSMP	ss648414221	Apr 25, 2013 (138)
13	EVA-GONL	ss975682899	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1068269882	Aug 21, 2014 (142)
15	1000GENOMES	ss1292927012	Aug 21, 2014 (142)
16	DDI	ss1425979085	Apr 01, 2015 (144)
17	EVA_GENOME_DK	ss1574392336	Apr 01, 2015 (144)
18	EVA_DECODE	ss1585064364	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1601214794	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1644208827	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1795092486	Sep 08, 2015 (146)
22	WEILL_CORNELL_DGM	ss1918916817	Feb 12, 2016 (147)
23	JJLAB	ss2019973956	Sep 14, 2016 (149)
24	USC_VALOUEV	ss2147998481	Dec 20, 2016 (150)
25	HUMAN_LONGEVITY	ss2166544134	Dec 20, 2016 (150)
26	GRF	ss2697971397	Nov 08, 2017 (151)
27	GNOMAD	ss2761319994	Nov 08, 2017 (151)
28	SWEGEN	ss2987752675	Nov 08, 2017 (151)
29	BIOINF_KMB_FNS_UNIBA	ss3023744170	Nov 08, 2017 (151)
30	CSHL	ss3343710697	Nov 08, 2017 (151)
31	URBANLAB	ss3646791452	Oct 11, 2018 (152)
32	EGCUT_WGS	ss3655692909	Jul 12, 2019 (153)
33	EVA_DECODE	ss3687783096	Jul 12, 2019 (153)
34	ACPOP	ss3727486034	Jul 12, 2019 (153)
35	EVA	ss3746808537	Jul 12, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3799810201	Jul 12, 2019 (153)
37	EVA	ss3826424345	Apr 25, 2020 (154)
38	EVA	ss3836606780	Apr 25, 2020 (154)
39	EVA	ss3842016006	Apr 25, 2020 (154)
40	SGDP_PRJ	ss3850007240	Apr 25, 2020 (154)
41	KRGDB	ss3895213806	Apr 25, 2020 (154)
42	KOGIC	ss3945652019	Apr 25, 2020 (154)
43	TOPMED	ss4468315422	Apr 25, 2021 (155)
44	TOMMO_GENOMICS	ss5146484854	Apr 25, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5244294226	Oct 12, 2022 (156)
46	EVA	ss5322052102	Oct 12, 2022 (156)
47	EVA	ss5506029356	Oct 12, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5517623012	Oct 12, 2022 (156)
49	SANFORD_IMAGENETICS	ss5626592100	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5673681016	Oct 12, 2022 (156)
51	YY_MCH	ss5801260439	Oct 12, 2022 (156)
52	EVA	ss5832666004	Oct 12, 2022 (156)
53	EVA	ss5849109081	Oct 12, 2022 (156)
54	EVA	ss5910247210	Oct 12, 2022 (156)
55	EVA	ss5938385998	Oct 12, 2022 (156)
56	1000Genomes	NC_000001.10 - 154605873	Oct 11, 2018 (152)
57	1000Genomes_30x	NC_000001.11 - 154633397	Oct 12, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 154605873	Oct 11, 2018 (152)
59	Genetic variation in the Estonian population	NC_000001.10 - 154605873	Oct 11, 2018 (152)
60	The Danish reference pan genome	NC_000001.10 - 154605873	Apr 25, 2020 (154)
61	gnomAD - Genomes	NC_000001.11 - 154633397	Apr 25, 2021 (155)
62	Genome of the Netherlands Release 5	NC_000001.10 - 154605873	Apr 25, 2020 (154)
63	KOREAN population from KRGDB	NC_000001.10 - 154605873	Apr 25, 2020 (154)
64	Korean Genome Project	NC_000001.11 - 154633397	Apr 25, 2020 (154)
65	Northern Sweden	NC_000001.10 - 154605873	Jul 12, 2019 (153)
66	Qatari	NC_000001.10 - 154605873	Apr 25, 2020 (154)
67	SGDP_PRJ	NC_000001.10 - 154605873	Apr 25, 2020 (154)
68	Siberian	NC_000001.10 - 154605873	Apr 25, 2020 (154)
69	8.3KJPN	NC_000001.10 - 154605873	Apr 25, 2021 (155)
70	14KJPN	NC_000001.11 - 154633397	Oct 12, 2022 (156)
71	TopMed	NC_000001.11 - 154633397	Apr 25, 2021 (155)
72	UK 10K study - Twins	NC_000001.10 - 154605873	Oct 11, 2018 (152)
73	A Vietnamese Genetic Variation Database	NC_000001.10 - 154605873	Jul 12, 2019 (153)
74	ALFA	NC_000001.11 - 154633397	Apr 25, 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
5394021707	NC_000001.11:154633396:C:A	NC_000001.11:154633396:C:A	(self)
ss253509546, ss276051374, ss284152728, ss290637161, ss1585064364	NC_000001.9:152872496:C:T	NC_000001.11:154633396:C:T	(self)
3719144, 2022135, 1431157, 1708790, 878534, 2391200, 770899, 958747, 2024220, 514835, 4454161, 2022135, 434572, ss230732077, ss238379963, ss648414221, ss975682899, ss1068269882, ss1292927012, ss1425979085, ss1574392336, ss1601214794, ss1644208827, ss1795092486, ss1918916817, ss2019973956, ss2147998481, ss2697971397, ss2761319994, ss2987752675, ss3343710697, ss3655692909, ss3727486034, ss3746808537, ss3826424345, ss3836606780, ss3850007240, ss3895213806, ss5146484854, ss5322052102, ss5506029356, ss5626592100, ss5832666004, ss5938385998	NC_000001.10:154605872:C:T	NC_000001.11:154633396:C:T	(self)
5148947, 27061933, 2030020, 7518120, 31921757, 5394021707, ss2166544134, ss3023744170, ss3646791452, ss3687783096, ss3799810201, ss3842016006, ss3945652019, ss4468315422, ss5244294226, ss5517623012, ss5673681016, ss5801260439, ss5849109081, ss5910247210	NC_000001.11:154633396:C:T	NC_000001.11:154633396:C:T	(self)
ss41343159, ss99251176, ss139210539, ss155753268	NT_004487.19:6094514:C:T	NC_000001.11:154633396:C:T	(self)
ss9859256	NT_004668.15:1055704:C:T	NC_000001.11:154633396:C: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 rs6681391

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

rs6681391