Name: rs2346619
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.

rs2346619

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:2470600 (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=0.048642 (12875/264690, TOPMED)
A=0.046738 (6554/140228, GnomAD)
A=0.03123 (1104/35348, ALFA) (+ 19 more)
A=0.05199 (1469/28258, 14KJPN)
A=0.05322 (892/16760, 8.3KJPN)
A=0.0614 (393/6404, 1000G_30x)
A=0.0607 (304/5008, 1000G)
A=0.0279 (125/4480, Estonian)
A=0.0153 (59/3854, ALSPAC)
A=0.0173 (64/3708, TWINSUK)
A=0.0664 (194/2922, KOREAN)
A=0.0794 (150/1888, HapMap)
A=0.0693 (127/1832, Korea1K)
A=0.010 (10/998, GoNL)
A=0.018 (11/626, Chileans)
A=0.022 (13/600, NorthernSweden)
A=0.056 (12/216, Qatari)
A=0.056 (12/216, Vietnamese)
A=0.03 (1/40, GENOME_DK)
C=0.47 (14/30, SGDP_PRJ)
C=0.5 (4/8, Siberian)
A=0.5 (4/8, 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	35348	C=0.96877	A=0.03123
European	Sub	27846	C=0.97734	A=0.02266
African	Sub	3838	C=0.9109	A=0.0891
African Others	Sub	136	C=0.846	A=0.154
African American	Sub	3702	C=0.9133	A=0.0867
Asian	Sub	176	C=0.960	A=0.040
East Asian	Sub	116	C=0.940	A=0.060
Other Asian	Sub	60	C=1.00	A=0.00
Latin American 1	Sub	234	C=0.962	A=0.038
Latin American 2	Sub	844	C=0.967	A=0.033
South Asian	Sub	126	C=0.960	A=0.040
Other	Sub	2284	C=0.9641	A=0.0359

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=0.951358	A=0.048642
gnomAD - Genomes	Global	Study-wide	140228	C=0.953262	A=0.046738
gnomAD - Genomes	European	Sub	75936	C=0.97857	A=0.02143
gnomAD - Genomes	African	Sub	42022	C=0.90103	A=0.09897
gnomAD - Genomes	American	Sub	13664	C=0.97182	A=0.02818
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9708	A=0.0292
gnomAD - Genomes	East Asian	Sub	3132	C=0.9448	A=0.0552
gnomAD - Genomes	Other	Sub	2150	C=0.9474	A=0.0526
Allele Frequency Aggregator	Total	Global	35348	C=0.96877	A=0.03123
Allele Frequency Aggregator	European	Sub	27846	C=0.97734	A=0.02266
Allele Frequency Aggregator	African	Sub	3838	C=0.9109	A=0.0891
Allele Frequency Aggregator	Other	Sub	2284	C=0.9641	A=0.0359
Allele Frequency Aggregator	Latin American 2	Sub	844	C=0.967	A=0.033
Allele Frequency Aggregator	Latin American 1	Sub	234	C=0.962	A=0.038
Allele Frequency Aggregator	Asian	Sub	176	C=0.960	A=0.040
Allele Frequency Aggregator	South Asian	Sub	126	C=0.960	A=0.040
14KJPN	JAPANESE	Study-wide	28258	C=0.94801	A=0.05199
8.3KJPN	JAPANESE	Study-wide	16760	C=0.94678	A=0.05322
1000Genomes_30x	Global	Study-wide	6404	C=0.9386	A=0.0614
1000Genomes_30x	African	Sub	1786	C=0.8802	A=0.1198
1000Genomes_30x	Europe	Sub	1266	C=0.9755	A=0.0245
1000Genomes_30x	South Asian	Sub	1202	C=0.9476	A=0.0524
1000Genomes_30x	East Asian	Sub	1170	C=0.9479	A=0.0521
1000Genomes_30x	American	Sub	980	C=0.976	A=0.024
1000Genomes	Global	Study-wide	5008	C=0.9393	A=0.0607
1000Genomes	African	Sub	1322	C=0.8828	A=0.1172
1000Genomes	East Asian	Sub	1008	C=0.9474	A=0.0526
1000Genomes	Europe	Sub	1006	C=0.9771	A=0.0229
1000Genomes	South Asian	Sub	978	C=0.944	A=0.056
1000Genomes	American	Sub	694	C=0.974	A=0.026
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9721	A=0.0279
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9847	A=0.0153
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9827	A=0.0173
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9336	A=0.0664
HapMap	Global	Study-wide	1888	C=0.9206	A=0.0794
HapMap	American	Sub	766	C=0.950	A=0.050
HapMap	African	Sub	692	C=0.857	A=0.143
HapMap	Asian	Sub	254	C=0.953	A=0.047
HapMap	Europe	Sub	176	C=0.994	A=0.006
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9307	A=0.0693
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.990	A=0.010
Chileans	Chilean	Study-wide	626	C=0.982	A=0.018
Northern Sweden	ACPOP	Study-wide	600	C=0.978	A=0.022
Qatari	Global	Study-wide	216	C=0.944	A=0.056
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.944	A=0.056
The Danish reference pan genome	Danish	Study-wide	40	C=0.97	A=0.03
SGDP_PRJ	Global	Study-wide	30	C=0.47	A=0.53
Siberian	Global	Study-wide	8	C=0.5	A=0.5

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 18	NC_000018.10:g.2470600C>A
GRCh37.p13 chr 18	NC_000018.9:g.2470599C>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
GRCh38.p14 chr 18	NC_000018.10:g.2470600=	NC_000018.10:g.2470600C>A
GRCh37.p13 chr 18	NC_000018.9:g.2470599=	NC_000018.9:g.2470599C>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#.

62 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3300771	Sep 28, 2001 (100)
2	TSC-CSHL	ss5388508	Oct 10, 2002 (111)
3	SC_JCM	ss5629902	Feb 20, 2003 (126)
4	AFFY	ss66366063	Dec 01, 2006 (127)
5	AFFY	ss76088804	Dec 06, 2007 (129)
6	KRIBB_YJKIM	ss81768288	Dec 15, 2007 (130)
7	AFFY	ss172463260	Jul 04, 2010 (132)
8	1000GENOMES	ss227703430	Jul 14, 2010 (132)
9	1000GENOMES	ss237355791	Jul 15, 2010 (132)
10	1000GENOMES	ss243628456	Jul 15, 2010 (132)
11	GMI	ss282876657	May 04, 2012 (137)
12	ILLUMINA	ss483000344	May 04, 2012 (137)
13	ILLUMINA	ss483708244	May 04, 2012 (137)
14	ILLUMINA	ss534977931	Sep 08, 2015 (146)
15	TISHKOFF	ss565463675	Apr 25, 2013 (138)
16	SSMP	ss661282205	Apr 25, 2013 (138)
17	ILLUMINA	ss780117225	Sep 08, 2015 (146)
18	ILLUMINA	ss781948162	Sep 08, 2015 (146)
19	ILLUMINA	ss835600118	Sep 08, 2015 (146)
20	EVA-GONL	ss993424785	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1081278040	Aug 21, 2014 (142)
22	1000GENOMES	ss1359884249	Aug 21, 2014 (142)
23	EVA_GENOME_DK	ss1578282147	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1636277754	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1679271787	Apr 01, 2015 (144)
26	EVA_DECODE	ss1697476160	Apr 01, 2015 (144)
27	EVA_SVP	ss1713604292	Apr 01, 2015 (144)
28	WEILL_CORNELL_DGM	ss1936895183	Feb 12, 2016 (147)
29	JJLAB	ss2029218830	Sep 14, 2016 (149)
30	USC_VALOUEV	ss2157713357	Dec 20, 2016 (150)
31	HUMAN_LONGEVITY	ss2219325209	Dec 20, 2016 (150)
32	ILLUMINA	ss2633437550	Nov 08, 2017 (151)
33	GRF	ss2702282189	Nov 08, 2017 (151)
34	GNOMAD	ss2953434066	Nov 08, 2017 (151)
35	SWEGEN	ss3016055781	Nov 08, 2017 (151)
36	CSHL	ss3351886553	Nov 08, 2017 (151)
37	ILLUMINA	ss3627744954	Oct 12, 2018 (152)
38	ILLUMINA	ss3631415821	Oct 12, 2018 (152)
39	ILLUMINA	ss3642012002	Oct 12, 2018 (152)
40	EGCUT_WGS	ss3682910070	Jul 13, 2019 (153)
41	EVA_DECODE	ss3701095671	Jul 13, 2019 (153)
42	ACPOP	ss3742296226	Jul 13, 2019 (153)
43	EVA	ss3755042267	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3820305785	Jul 13, 2019 (153)
45	EVA	ss3835025411	Apr 27, 2020 (154)
46	SGDP_PRJ	ss3886415179	Apr 27, 2020 (154)
47	KRGDB	ss3936218213	Apr 27, 2020 (154)
48	KOGIC	ss3979485340	Apr 27, 2020 (154)
49	TOPMED	ss5046648605	Apr 27, 2021 (155)
50	TOMMO_GENOMICS	ss5223893586	Apr 27, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5304252230	Oct 16, 2022 (156)
52	EVA	ss5315910972	Oct 16, 2022 (156)
53	EVA	ss5429590851	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5497178908	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5608485259	Oct 16, 2022 (156)
56	SANFORD_IMAGENETICS	ss5660719956	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5780585118	Oct 16, 2022 (156)
58	YY_MCH	ss5816811852	Oct 16, 2022 (156)
59	EVA	ss5827153156	Oct 16, 2022 (156)
60	EVA	ss5851936838	Oct 16, 2022 (156)
61	EVA	ss5872950370	Oct 16, 2022 (156)
62	EVA	ss5952118340	Oct 16, 2022 (156)
63	1000Genomes	NC_000018.9 - 2470599	Oct 12, 2018 (152)
64	1000Genomes_30x	NC_000018.10 - 2470600	Oct 16, 2022 (156)
65	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 2470599	Oct 12, 2018 (152)
66	Chileans	NC_000018.9 - 2470599	Apr 27, 2020 (154)
67	Genetic variation in the Estonian population	NC_000018.9 - 2470599	Oct 12, 2018 (152)
68	The Danish reference pan genome	NC_000018.9 - 2470599	Apr 27, 2020 (154)
69	gnomAD - Genomes	NC_000018.10 - 2470600	Apr 27, 2021 (155)
70	Genome of the Netherlands Release 5	NC_000018.9 - 2470599	Apr 27, 2020 (154)
71	HapMap	NC_000018.10 - 2470600	Apr 27, 2020 (154)
72	KOREAN population from KRGDB	NC_000018.9 - 2470599	Apr 27, 2020 (154)
73	Korean Genome Project	NC_000018.10 - 2470600	Apr 27, 2020 (154)
74	Northern Sweden	NC_000018.9 - 2470599	Jul 13, 2019 (153)
75	Qatari	NC_000018.9 - 2470599	Apr 27, 2020 (154)
76	SGDP_PRJ	NC_000018.9 - 2470599	Apr 27, 2020 (154)
77	Siberian	NC_000018.9 - 2470599	Apr 27, 2020 (154)
78	8.3KJPN	NC_000018.9 - 2470599	Apr 27, 2021 (155)
79	14KJPN	NC_000018.10 - 2470600	Oct 16, 2022 (156)
80	TopMed	NC_000018.10 - 2470600	Apr 27, 2021 (155)
81	UK 10K study - Twins	NC_000018.9 - 2470599	Oct 12, 2018 (152)
82	A Vietnamese Genetic Variation Database	NC_000018.9 - 2470599	Jul 13, 2019 (153)
83	ALFA	NC_000018.10 - 2470600	Apr 27, 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)
rs4035399	Feb 20, 2003 (111)
rs4264468	Mar 11, 2006 (126)
rs60282838	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss282876657, ss483708244, ss1697476160, ss1713604292	NC_000018.8:2460598:C:A	NC_000018.10:2470599:C:A	(self)
73172876, 40542105, 187648, 28648318, 4479227, 18060577, 43395607, 15581091, 18937105, 38432159, 10229711, 81862893, 40542105, 8960674, ss227703430, ss237355791, ss243628456, ss483000344, ss534977931, ss565463675, ss661282205, ss780117225, ss781948162, ss835600118, ss993424785, ss1081278040, ss1359884249, ss1578282147, ss1636277754, ss1679271787, ss1936895183, ss2029218830, ss2157713357, ss2633437550, ss2702282189, ss2953434066, ss3016055781, ss3351886553, ss3627744954, ss3631415821, ss3642012002, ss3682910070, ss3742296226, ss3755042267, ss3835025411, ss3886415179, ss3936218213, ss5223893586, ss5315910972, ss5429590851, ss5660719956, ss5827153156, ss5952118340	NC_000018.9:2470598:C:A	NC_000018.10:2470599:C:A	(self)
96011194, 516303406, 1540850, 35863341, 114422222, 262194268, 2462821070, ss2219325209, ss3701095671, ss3820305785, ss3979485340, ss5046648605, ss5304252230, ss5497178908, ss5608485259, ss5780585118, ss5816811852, ss5851936838, ss5872950370	NC_000018.10:2470599:C:A	NC_000018.10:2470599:C:A	(self)
ss3300771, ss5388508, ss5629902, ss66366063, ss76088804, ss81768288, ss172463260	NT_010859.14:2460598:C:A	NC_000018.10:2470599: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 rs2346619

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

rs2346619