Name: rs6918373
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.

rs6918373

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:71856361 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.00021 (6/28258, 14KJPN)
A=0.00042 (7/16760, 8.3KJPN)
A=0.0006 (4/6404, 1000G_30x) (+ 13 more)
A=0.0004 (2/5008, 1000G)
A=0.0002 (1/4480, Estonian)
A=0.0002 (1/4470, ALFA)
A=0.0003 (1/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.0007 (2/2930, KOREAN)
A=0.0005 (1/1832, Korea1K)
A=0.000 (0/600, NorthernSweden)
A=0.000 (0/558, SGDP_PRJ)
A=0.000 (0/216, Qatari)
A=0.005 (1/210, Vietnamese)
A=0.00 (0/40, GENOME_DK)
A=0.0 (0/2, 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	4470	A=0.0002	C=0.0000, G=0.9998
European	Sub	4462	A=0.0002	C=0.0000, G=0.9998
African	Sub	0	A=0	C=0, G=0
African Others	Sub	0	A=0	C=0, G=0
African American	Sub	0	A=0	C=0, G=0
Asian	Sub	0	A=0	C=0, G=0
East Asian	Sub	0	A=0	C=0, G=0
Other Asian	Sub	0	A=0	C=0, G=0
Latin American 1	Sub	0	A=0	C=0, G=0
Latin American 2	Sub	0	A=0	C=0, G=0
South Asian	Sub	0	A=0	C=0, G=0
Other	Sub	8	A=0.0	C=0.0, G=1.0

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
14KJPN	JAPANESE	Study-wide	28258	A=0.00021	G=0.99979
8.3KJPN	JAPANESE	Study-wide	16760	A=0.00042	G=0.99958
1000Genomes_30x	Global	Study-wide	6404	A=0.0006	G=0.9994
1000Genomes_30x	African	Sub	1786	A=0.0006	G=0.9994
1000Genomes_30x	Europe	Sub	1266	A=0.0000	G=1.0000
1000Genomes_30x	South Asian	Sub	1202	A=0.0000	G=1.0000
1000Genomes_30x	East Asian	Sub	1170	A=0.0026	G=0.9974
1000Genomes_30x	American	Sub	980	A=0.000	G=1.000
1000Genomes	Global	Study-wide	5008	A=0.0004	G=0.9996
1000Genomes	African	Sub	1322	A=0.0000	G=1.0000
1000Genomes	East Asian	Sub	1008	A=0.0010	G=0.9990
1000Genomes	Europe	Sub	1006	A=0.0010	G=0.9990
1000Genomes	South Asian	Sub	978	A=0.000	G=1.000
1000Genomes	American	Sub	694	A=0.000	G=1.000
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.0002	G=0.9998
Allele Frequency Aggregator	Total	Global	4470	A=0.0002	C=0.0000, G=0.9998
Allele Frequency Aggregator	European	Sub	4462	A=0.0002	C=0.0000, G=0.9998
Allele Frequency Aggregator	Other	Sub	8	A=0.0	C=0.0, G=1.0
Allele Frequency Aggregator	Latin American 1	Sub	0	A=0	C=0, G=0
Allele Frequency Aggregator	Latin American 2	Sub	0	A=0	C=0, G=0
Allele Frequency Aggregator	South Asian	Sub	0	A=0	C=0, G=0
Allele Frequency Aggregator	African	Sub	0	A=0	C=0, G=0
Allele Frequency Aggregator	Asian	Sub	0	A=0	C=0, G=0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.0003	G=0.9997
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.0000	G=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0007	G=0.9993, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0005	G=0.9995
Northern Sweden	ACPOP	Study-wide	600	A=0.000	G=1.000
SGDP_PRJ	Global	Study-wide	558	A=0.000	G=1.000
Qatari	Global	Study-wide	216	A=0.000	G=1.000
A Vietnamese Genetic Variation Database	Global	Study-wide	210	A=0.005	G=0.995
The Danish reference pan genome	Danish	Study-wide	40	A=0.00	G=1.00
Siberian	Global	Study-wide	2	A=0.0	G=1.0

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.71856361A>C
GRCh38.p14 chr 6	NC_000006.12:g.71856361A>G
GRCh38.p14 chr 6	NC_000006.12:g.71856361A>T
GRCh37.p13 chr 6	NC_000006.11:g.72566064A>C
GRCh37.p13 chr 6	NC_000006.11:g.72566064A>G
GRCh37.p13 chr 6	NC_000006.11:g.72566064A>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	A=	C	G	T
GRCh38.p14 chr 6	NC_000006.12:g.71856361=	NC_000006.12:g.71856361A>C	NC_000006.12:g.71856361A>G	NC_000006.12:g.71856361A>T
GRCh37.p13 chr 6	NC_000006.11:g.72566064=	NC_000006.11:g.72566064A>C	NC_000006.11:g.72566064A>G	NC_000006.11:g.72566064A>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#.

59 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10305005	Jul 11, 2003 (116)
2	SC_SNP	ss12779081	Dec 05, 2003 (119)
3	HGSV	ss84279695	Dec 15, 2007 (130)
4	BCMHGSC_JDW	ss93490121	Mar 24, 2008 (129)
5	HUMANGENOME_JCVI	ss98404296	Feb 05, 2009 (130)
6	ENSEMBL	ss144026825	Dec 01, 2009 (131)
7	ENSEMBL	ss144046580	Dec 01, 2009 (131)
8	GMI	ss157131681	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss162493929	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss163703363	Jul 04, 2010 (132)
11	BUSHMAN	ss202006824	Jul 04, 2010 (132)
12	BCM-HGSC-SUB	ss207812003	Jul 04, 2010 (132)
13	BL	ss254448874	May 09, 2011 (134)
14	GMI	ss278862379	May 04, 2012 (137)
15	PJP	ss293633752	May 09, 2011 (134)
16	1000GENOMES	ss333371982	May 09, 2011 (134)
17	SSMP	ss653242775	Apr 25, 2013 (138)
18	1000GENOMES	ss1320690866	Aug 21, 2014 (142)
19	DDI	ss1430777317	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1581733570	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1615859185	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1658853218	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1804498306	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1926338290	Feb 12, 2016 (147)
25	GENOMED	ss1970432104	Jul 19, 2016 (147)
26	JJLAB	ss2023811389	Sep 14, 2016 (149)
27	USC_VALOUEV	ss2152003082	Dec 20, 2016 (150)
28	HUMAN_LONGEVITY	ss2285041936	Dec 20, 2016 (150)
29	SYSTEMSBIOZJU	ss2626400182	Nov 08, 2017 (151)
30	GRF	ss2707611995	Nov 08, 2017 (151)
31	GNOMAD	ss2840560824	Nov 08, 2017 (151)
32	SWEGEN	ss2999309516	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3025698992	Nov 08, 2017 (151)
34	CSHL	ss3347044339	Nov 08, 2017 (151)
35	URBANLAB	ss3648384652	Oct 12, 2018 (152)
36	EGCUT_WGS	ss3667178872	Jul 13, 2019 (153)
37	EVA_DECODE	ss3717492701	Jul 13, 2019 (153)
38	ACPOP	ss3733632890	Jul 13, 2019 (153)
39	EVA	ss3765188325	Jul 13, 2019 (153)
40	PACBIO	ss3785513844	Jul 13, 2019 (153)
41	PACBIO	ss3790858922	Jul 13, 2019 (153)
42	PACBIO	ss3795737972	Jul 13, 2019 (153)
43	KHV_HUMAN_GENOMES	ss3808336787	Jul 13, 2019 (153)
44	EVA	ss3829998242	Apr 26, 2020 (154)
45	EVA	ss3838479064	Apr 26, 2020 (154)
46	EVA	ss3843926132	Apr 26, 2020 (154)
47	SGDP_PRJ	ss3864876105	Apr 26, 2020 (154)
48	KRGDB	ss3911742931	Apr 26, 2020 (154)
49	KOGIC	ss3959317956	Apr 26, 2020 (154)
50	TOMMO_GENOMICS	ss5178135004	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5268951003	Oct 17, 2022 (156)
52	HUGCELL_USP	ss5466545154	Oct 17, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5555141325	Oct 17, 2022 (156)
54	SANFORD_IMAGENETICS	ss5640689030	Oct 17, 2022 (156)
55	TOMMO_GENOMICS	ss5716503953	Oct 17, 2022 (156)
56	YY_MCH	ss5807605177	Oct 17, 2022 (156)
57	EVA	ss5842448910	Oct 17, 2022 (156)
58	EVA	ss5969183646	Oct 17, 2022 (156)
59	EVA	ss5980375748	Oct 17, 2022 (156)
60	1000Genomes	NC_000006.11 - 72566064	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000006.12 - 71856361	Oct 17, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 72566064	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000006.11 - 72566064	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000006.11 - 72566064	Apr 26, 2020 (154)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 229375450 (NC_000006.12:71856360:A:C 2/139676) Row 229375451 (NC_000006.12:71856360:A:G 139652/139676)	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 229375450 (NC_000006.12:71856360:A:C 2/139676) Row 229375451 (NC_000006.12:71856360:A:G 139652/139676)	-	Apr 26, 2021 (155)
67	KOREAN population from KRGDB	NC_000006.11 - 72566064	Apr 26, 2020 (154)
68	Korean Genome Project	NC_000006.12 - 71856361	Apr 26, 2020 (154)
69	Northern Sweden	NC_000006.11 - 72566064	Jul 13, 2019 (153)
70	Qatari	NC_000006.11 - 72566064	Apr 26, 2020 (154)
71	SGDP_PRJ	NC_000006.11 - 72566064	Apr 26, 2020 (154)
72	Siberian	NC_000006.11 - 72566064	Apr 26, 2020 (154)
73	8.3KJPN	NC_000006.11 - 72566064	Apr 26, 2021 (155)
74	14KJPN	NC_000006.12 - 71856361	Oct 17, 2022 (156)
75	UK 10K study - Twins	NC_000006.11 - 72566064	Oct 12, 2018 (152)
76	A Vietnamese Genetic Variation Database	NC_000006.11 - 72566064	Jul 13, 2019 (153)
77	ALFA	NC_000006.12 - 71856361	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).

Associated ID	History Updated (Build)
rs59121810	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3915252893	NC_000006.12:71856360:A:C	NC_000006.12:71856360:A:C	(self)
ss84279695	NC_000006.9:72622784:A:G	NC_000006.12:71856360:A:G	(self)
ss93490121, ss162493929, ss163703363, ss202006824, ss207812003, ss254448874, ss278862379, ss293633752	NC_000006.10:72622784:A:G	NC_000006.12:71856360:A:G	(self)
32499392, 18107246, 12917120, 7898509, 18920325, 6917755, 8380220, 16893085, 4519436, 36104311, 18107246, 4022568, ss333371982, ss653242775, ss1320690866, ss1430777317, ss1581733570, ss1615859185, ss1658853218, ss1804498306, ss1926338290, ss1970432104, ss2023811389, ss2152003082, ss2626400182, ss2707611995, ss2840560824, ss2999309516, ss3347044339, ss3667178872, ss3733632890, ss3765188325, ss3785513844, ss3790858922, ss3795737972, ss3829998242, ss3838479064, ss3864876105, ss3911742931, ss5178135004, ss5640689030, ss5842448910, ss5969183646, ss5980375748	NC_000006.11:72566063:A:G	NC_000006.12:71856360:A:G	(self)
42667260, 15695957, 50341057, 3915252893, ss2285041936, ss3025698992, ss3648384652, ss3717492701, ss3808336787, ss3843926132, ss3959317956, ss5268951003, ss5466545154, ss5555141325, ss5716503953, ss5807605177	NC_000006.12:71856360:A:G	NC_000006.12:71856360:A:G	(self)
ss10305005, ss12779081	NT_007299.12:10386236:A:G	NC_000006.12:71856360:A:G	(self)
ss98404296, ss144026825, ss144046580, ss157131681	NT_007299.13:10685897:A:G	NC_000006.12:71856360:A:G	(self)
18920325, ss3911742931	NC_000006.11:72566063:A:T	NC_000006.12:71856360:A: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 rs6918373

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

rs6918373