Name: rs6815814
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.

rs6815814

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:38814717 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.466644 (123516/264690, TOPMED)
C=0.428378 (59966/139984, GnomAD)
A=0.32685 (9236/28258, 14KJPN) (+ 16 more)
C=0.33536 (6335/18890, ALFA)
A=0.33192 (5563/16760, 8.3KJPN)
A=0.4349 (2785/6404, 1000G_30x)
A=0.4361 (2184/5008, 1000G)
C=0.1810 (811/4480, Estonian)
C=0.2525 (973/3854, ALSPAC)
C=0.2309 (856/3708, TWINSUK)
A=0.3771 (1105/2930, KOREAN)
A=0.3816 (699/1832, Korea1K)
C=0.263 (262/998, GoNL)
C=0.182 (109/600, NorthernSweden)
A=0.290 (116/400, SGDP_PRJ)
A=0.386 (125/324, HapMap)
A=0.398 (86/216, Qatari)
C=0.28 (11/40, GENOME_DK)
A=0.32 (12/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC124900695 : Intron Variant
Publications: 1 citation
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	18890	A=0.66464	C=0.33536	0.492853	0.163579	0.343568	32
European	Sub	14286	A=0.77047	C=0.22953	0.601288	0.060339	0.338373	8
African	Sub	2946	A=0.2074	C=0.7926	0.049559	0.634759	0.315682	2
African Others	Sub	114	A=0.096	C=0.904	0.0	0.807018	0.192982	0
African American	Sub	2832	A=0.2119	C=0.7881	0.051554	0.627825	0.320621	2
Asian	Sub	112	A=0.429	C=0.571	0.142857	0.285714	0.571429	1
East Asian	Sub	86	A=0.43	C=0.57	0.162791	0.302326	0.534884	0
Other Asian	Sub	26	A=0.42	C=0.58	0.076923	0.230769	0.692308	2
Latin American 1	Sub	146	A=0.425	C=0.575	0.164384	0.315068	0.520548	0
Latin American 2	Sub	610	A=0.679	C=0.321	0.478689	0.121311	0.4	1
South Asian	Sub	98	A=0.44	C=0.56	0.163265	0.285714	0.55102	0
Other	Sub	692	A=0.535	C=0.465	0.32659	0.257225	0.416185	6

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	A=0.533356	C=0.466644
gnomAD - Genomes	Global	Study-wide	139984	A=0.571622	C=0.428378
gnomAD - Genomes	European	Sub	75872	A=0.77548	C=0.22452
gnomAD - Genomes	African	Sub	41896	A=0.20945	C=0.79055
gnomAD - Genomes	American	Sub	13626	A=0.58836	C=0.41164
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.5639	C=0.4361
gnomAD - Genomes	East Asian	Sub	3120	A=0.4340	C=0.5660
gnomAD - Genomes	Other	Sub	2152	A=0.5409	C=0.4591
14KJPN	JAPANESE	Study-wide	28258	A=0.32685	C=0.67315
Allele Frequency Aggregator	Total	Global	18890	A=0.66464	C=0.33536
Allele Frequency Aggregator	European	Sub	14286	A=0.77047	C=0.22953
Allele Frequency Aggregator	African	Sub	2946	A=0.2074	C=0.7926
Allele Frequency Aggregator	Other	Sub	692	A=0.535	C=0.465
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.679	C=0.321
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.425	C=0.575
Allele Frequency Aggregator	Asian	Sub	112	A=0.429	C=0.571
Allele Frequency Aggregator	South Asian	Sub	98	A=0.44	C=0.56
8.3KJPN	JAPANESE	Study-wide	16760	A=0.33192	C=0.66808
1000Genomes_30x	Global	Study-wide	6404	A=0.4349	C=0.5651
1000Genomes_30x	African	Sub	1786	A=0.1025	C=0.8975
1000Genomes_30x	Europe	Sub	1266	A=0.7070	C=0.2930
1000Genomes_30x	South Asian	Sub	1202	A=0.5017	C=0.4983
1000Genomes_30x	East Asian	Sub	1170	A=0.4248	C=0.5752
1000Genomes_30x	American	Sub	980	A=0.619	C=0.381
1000Genomes	Global	Study-wide	5008	A=0.4361	C=0.5639
1000Genomes	African	Sub	1322	A=0.1029	C=0.8971
1000Genomes	East Asian	Sub	1008	A=0.4157	C=0.5843
1000Genomes	Europe	Sub	1006	A=0.7097	C=0.2903
1000Genomes	South Asian	Sub	978	A=0.501	C=0.499
1000Genomes	American	Sub	694	A=0.612	C=0.388
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.8190	C=0.1810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7475	C=0.2525
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7691	C=0.2309
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3771	C=0.6229, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3816	C=0.6184
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.737	C=0.263
Northern Sweden	ACPOP	Study-wide	600	A=0.818	C=0.182
SGDP_PRJ	Global	Study-wide	400	A=0.290	C=0.710
HapMap	Global	Study-wide	324	A=0.386	C=0.614
HapMap	American	Sub	118	A=0.703	C=0.297
HapMap	African	Sub	116	A=0.095	C=0.905
HapMap	Asian	Sub	90	A=0.34	C=0.66
Qatari	Global	Study-wide	216	A=0.398	C=0.602
The Danish reference pan genome	Danish	Study-wide	40	A=0.72	C=0.28
Siberian	Global	Study-wide	38	A=0.32	C=0.68

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 4	NC_000004.12:g.38814717A>C
GRCh38.p14 chr 4	NC_000004.12:g.38814717A>G
GRCh37.p13 chr 4	NC_000004.11:g.38816338A>C
GRCh37.p13 chr 4	NC_000004.11:g.38816338A>G

Gene: LOC124900695, uncharacterized LOC124900695 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124900695 transcript	XR_007058101.1:n.	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.

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
GRCh38.p14 chr 4	NC_000004.12:g.38814717=	NC_000004.12:g.38814717A>C	NC_000004.12:g.38814717A>G
GRCh37.p13 chr 4	NC_000004.11:g.38816338=	NC_000004.11:g.38816338A>C	NC_000004.11:g.38816338A>G

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#.

70 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10110612	Jul 11, 2003 (116)
2	SC_SNP	ss14745801	Dec 05, 2003 (119)
3	HGSV	ss82249447	Dec 15, 2007 (130)
4	HGSV	ss84600949	Dec 15, 2007 (130)
5	BGI	ss105820816	Feb 06, 2009 (130)
6	1000GENOMES	ss112115874	Jan 25, 2009 (130)
7	1000GENOMES	ss113035444	Jan 25, 2009 (130)
8	ILLUMINA-UK	ss116958712	Dec 01, 2009 (131)
9	GMI	ss157120435	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss162031250	Jul 04, 2010 (132)
11	COMPLETE_GENOMICS	ss163357865	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss166458820	Jul 04, 2010 (132)
13	BUSHMAN	ss198383476	Jul 04, 2010 (132)
14	1000GENOMES	ss220867862	Jul 14, 2010 (132)
15	1000GENOMES	ss232350523	Jul 14, 2010 (132)
16	1000GENOMES	ss239652750	Jul 15, 2010 (132)
17	ILLUMINA	ss244306584	Jul 04, 2010 (132)
18	GMI	ss277662083	May 04, 2012 (137)
19	PJP	ss293328261	May 09, 2011 (134)
20	TISHKOFF	ss557447019	Apr 25, 2013 (138)
21	SSMP	ss651229649	Apr 25, 2013 (138)
22	EVA-GONL	ss979997564	Aug 21, 2014 (142)
23	JMKIDD_LAB	ss1071451159	Aug 21, 2014 (142)
24	1000GENOMES	ss1309284215	Aug 21, 2014 (142)
25	DDI	ss1429844868	Apr 01, 2015 (144)
26	EVA_GENOME_DK	ss1580509718	Apr 01, 2015 (144)
27	EVA_DECODE	ss1589491896	Apr 01, 2015 (144)
28	EVA_UK10K_ALSPAC	ss1609863011	Apr 01, 2015 (144)
29	EVA_UK10K_TWINSUK	ss1652857044	Apr 01, 2015 (144)
30	HAMMER_LAB	ss1801296948	Sep 08, 2015 (146)
31	WEILL_CORNELL_DGM	ss1923229066	Feb 12, 2016 (147)
32	GENOMED	ss1969713542	Jul 19, 2016 (147)
33	JJLAB	ss2022198504	Sep 14, 2016 (149)
34	USC_VALOUEV	ss2150309632	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2262154568	Dec 20, 2016 (150)
36	SYSTEMSBIOZJU	ss2625599889	Nov 08, 2017 (151)
37	GRF	ss2705763229	Nov 08, 2017 (151)
38	GNOMAD	ss2807991507	Nov 08, 2017 (151)
39	SWEGEN	ss2994483742	Nov 08, 2017 (151)
40	BIOINF_KMB_FNS_UNIBA	ss3024869289	Nov 08, 2017 (151)
41	CSHL	ss3345650170	Nov 08, 2017 (151)
42	EGCUT_WGS	ss3662404678	Jul 13, 2019 (153)
43	EVA_DECODE	ss3711830148	Jul 13, 2019 (153)
44	ACPOP	ss3731051346	Jul 13, 2019 (153)
45	EVA	ss3761667498	Jul 13, 2019 (153)
46	PACBIO	ss3784679870	Jul 13, 2019 (153)
47	PACBIO	ss3790142874	Jul 13, 2019 (153)
48	PACBIO	ss3795018031	Jul 13, 2019 (153)
49	KHV_HUMAN_GENOMES	ss3804799054	Jul 13, 2019 (153)
50	EVA	ss3828482848	Apr 26, 2020 (154)
51	EVA	ss3837677601	Apr 26, 2020 (154)
52	EVA	ss3843112661	Apr 26, 2020 (154)
53	SGDP_PRJ	ss3858674013	Apr 26, 2020 (154)
54	KRGDB	ss3904848809	Apr 26, 2020 (154)
55	KOGIC	ss3953917673	Apr 26, 2020 (154)
56	TOPMED	ss4610030637	Apr 26, 2021 (155)
57	TOMMO_GENOMICS	ss5165140519	Apr 26, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5258790191	Oct 13, 2022 (156)
59	EVA	ss5348257788	Oct 13, 2022 (156)
60	HUGCELL_USP	ss5457617377	Oct 13, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5539624908	Oct 13, 2022 (156)
62	SANFORD_IMAGENETICS	ss5634784693	Oct 13, 2022 (156)
63	TOMMO_GENOMICS	ss5699044853	Oct 13, 2022 (156)
64	YY_MCH	ss5804952135	Oct 13, 2022 (156)
65	EVA	ss5843842222	Oct 13, 2022 (156)
66	EVA	ss5847241478	Oct 13, 2022 (156)
67	EVA	ss5854176211	Oct 13, 2022 (156)
68	EVA	ss5863004047	Oct 13, 2022 (156)
69	EVA	ss5963177419	Oct 13, 2022 (156)
70	EVA	ss5979697243	Oct 13, 2022 (156)
71	1000Genomes	NC_000004.11 - 38816338	Oct 12, 2018 (152)
72	1000Genomes_30x	NC_000004.12 - 38814717	Oct 13, 2022 (156)
73	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 38816338	Oct 12, 2018 (152)
74	Genetic variation in the Estonian population	NC_000004.11 - 38816338	Oct 12, 2018 (152)
75	The Danish reference pan genome	NC_000004.11 - 38816338	Apr 26, 2020 (154)
76	gnomAD - Genomes	NC_000004.12 - 38814717	Apr 26, 2021 (155)
77	Genome of the Netherlands Release 5	NC_000004.11 - 38816338	Apr 26, 2020 (154)
78	HapMap	NC_000004.12 - 38814717	Apr 26, 2020 (154)
79	KOREAN population from KRGDB	NC_000004.11 - 38816338	Apr 26, 2020 (154)
80	Korean Genome Project	NC_000004.12 - 38814717	Apr 26, 2020 (154)
81	Northern Sweden	NC_000004.11 - 38816338	Jul 13, 2019 (153)
82	Qatari	NC_000004.11 - 38816338	Apr 26, 2020 (154)
83	SGDP_PRJ	NC_000004.11 - 38816338	Apr 26, 2020 (154)
84	Siberian	NC_000004.11 - 38816338	Apr 26, 2020 (154)
85	8.3KJPN	NC_000004.11 - 38816338	Apr 26, 2021 (155)
86	14KJPN	NC_000004.12 - 38814717	Oct 13, 2022 (156)
87	TopMed	NC_000004.12 - 38814717	Apr 26, 2021 (155)
88	UK 10K study - Twins	NC_000004.11 - 38816338	Oct 12, 2018 (152)
89	ALFA	NC_000004.12 - 38814717	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)
rs60973638	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82249447, ss84600949	NC_000004.9:38638903:A:C	NC_000004.12:38814716:A:C	(self)
ss112115874, ss113035444, ss116958712, ss162031250, ss163357865, ss166458820, ss198383476, ss244306584, ss277662083, ss293328261, ss1589491896	NC_000004.10:38492732:A:C	NC_000004.12:38814716:A:C	(self)
20663365, 11513500, 8142926, 6674657, 5073270, 12026203, 4336211, 5270996, 10690993, 2825986, 23109826, 11513500, ss220867862, ss232350523, ss239652750, ss557447019, ss651229649, ss979997564, ss1071451159, ss1309284215, ss1429844868, ss1580509718, ss1609863011, ss1652857044, ss1801296948, ss1923229066, ss1969713542, ss2022198504, ss2150309632, ss2625599889, ss2705763229, ss2807991507, ss2994483742, ss3345650170, ss3662404678, ss3731051346, ss3761667498, ss3784679870, ss3790142874, ss3795018031, ss3828482848, ss3837677601, ss3858674013, ss3904848809, ss5165140519, ss5348257788, ss5634784693, ss5843842222, ss5847241478, ss5963177419, ss5979697243	NC_000004.11:38816337:A:C	NC_000004.12:38814716:A:C	(self)
27150843, 146294966, 2596979, 10295674, 32881957, 447408193, 1495733576, ss2262154568, ss3024869289, ss3711830148, ss3804799054, ss3843112661, ss3953917673, ss4610030637, ss5258790191, ss5457617377, ss5539624908, ss5699044853, ss5804952135, ss5854176211, ss5863004047	NC_000004.12:38814716:A:C	NC_000004.12:38814716:A:C	(self)
ss10110612	NT_016297.14:5964980:A:C	NC_000004.12:38814716:A:C	(self)
ss14745801	NT_016297.15:5964980:A:C	NC_000004.12:38814716:A:C	(self)
ss105820816, ss157120435	NT_016297.16:5975699:A:C	NC_000004.12:38814716:A:C	(self)
12026203, ss3904848809	NC_000004.11:38816337:A:G	NC_000004.12:38814716:A:G	(self)

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

1 citation for rs6815814

PMID	Title	Author	Year	Journal
29382703	Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.	Lilyquist J et al.	2018	Cancer epidemiology, biomarkers & prevention

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

rs6815814