Name: rs6701614
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.

rs6701614

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:45843748 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.450569 (119261/264690, TOPMED)
C=0.442853 (61964/139920, GnomAD)
G=0.37359 (10557/28258, 14KJPN) (+ 19 more)
C=0.44129 (8336/18890, ALFA)
G=0.37369 (6263/16760, 8.3KJPN)
C=0.4836 (3097/6404, 1000G_30x)
C=0.4840 (2424/5008, 1000G)
C=0.4342 (1945/4480, Estonian)
C=0.4408 (1699/3854, ALSPAC)
C=0.4264 (1581/3708, TWINSUK)
G=0.3232 (947/2930, KOREAN)
G=0.3068 (562/1832, Korea1K)
C=0.447 (446/998, GoNL)
C=0.447 (268/600, NorthernSweden)
C=0.470 (251/534, MGP)
G=0.316 (119/376, SGDP_PRJ)
C=0.494 (160/324, HapMap)
C=0.338 (73/216, Qatari)
G=0.403 (87/216, Vietnamese)
G=0.41 (19/46, Siberian)
G=0.50 (20/40, GENOME_DK)
C=0.50 (20/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MAST2 : Intron Variant
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	18890	G=0.55871	C=0.44129
European	Sub	14286	G=0.55859	C=0.44141
African	Sub	2946	G=0.5906	C=0.4094
African Others	Sub	114	G=0.553	C=0.447
African American	Sub	2832	G=0.5922	C=0.4078
Asian	Sub	112	G=0.393	C=0.607
East Asian	Sub	86	G=0.35	C=0.65
Other Asian	Sub	26	G=0.54	C=0.46
Latin American 1	Sub	146	G=0.582	C=0.418
Latin American 2	Sub	610	G=0.470	C=0.530
South Asian	Sub	98	G=0.55	C=0.45
Other	Sub	692	G=0.526	C=0.474

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=0.549431	C=0.450569
gnomAD - Genomes	Global	Study-wide	139920	G=0.557147	C=0.442853
gnomAD - Genomes	European	Sub	75784	G=0.56201	C=0.43799
gnomAD - Genomes	African	Sub	41910	G=0.57845	C=0.42155
gnomAD - Genomes	American	Sub	13638	G=0.51005	C=0.48995
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.5316	C=0.4684
gnomAD - Genomes	East Asian	Sub	3120	G=0.3897	C=0.6103
gnomAD - Genomes	Other	Sub	2146	G=0.5517	C=0.4483
14KJPN	JAPANESE	Study-wide	28258	G=0.37359	C=0.62641
Allele Frequency Aggregator	Total	Global	18890	G=0.55871	C=0.44129
Allele Frequency Aggregator	European	Sub	14286	G=0.55859	C=0.44141
Allele Frequency Aggregator	African	Sub	2946	G=0.5906	C=0.4094
Allele Frequency Aggregator	Other	Sub	692	G=0.526	C=0.474
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.470	C=0.530
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.582	C=0.418
Allele Frequency Aggregator	Asian	Sub	112	G=0.393	C=0.607
Allele Frequency Aggregator	South Asian	Sub	98	G=0.55	C=0.45
8.3KJPN	JAPANESE	Study-wide	16760	G=0.37369	C=0.62631
1000Genomes_30x	Global	Study-wide	6404	G=0.5164	C=0.4836
1000Genomes_30x	African	Sub	1786	G=0.5655	C=0.4345
1000Genomes_30x	Europe	Sub	1266	G=0.5545	C=0.4455
1000Genomes_30x	South Asian	Sub	1202	G=0.5649	C=0.4351
1000Genomes_30x	East Asian	Sub	1170	G=0.3581	C=0.6419
1000Genomes_30x	American	Sub	980	G=0.507	C=0.493
1000Genomes	Global	Study-wide	5008	G=0.5160	C=0.4840
1000Genomes	African	Sub	1322	G=0.5696	C=0.4304
1000Genomes	East Asian	Sub	1008	G=0.3472	C=0.6528
1000Genomes	Europe	Sub	1006	G=0.5547	C=0.4453
1000Genomes	South Asian	Sub	978	G=0.578	C=0.422
1000Genomes	American	Sub	694	G=0.516	C=0.484
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5658	C=0.4342
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5592	C=0.4408
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.5736	C=0.4264
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.3232	A=0.0000, C=0.6768
Korean Genome Project	KOREAN	Study-wide	1832	G=0.3068	C=0.6932
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.553	C=0.447
Northern Sweden	ACPOP	Study-wide	600	G=0.553	C=0.447
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.530	C=0.470
SGDP_PRJ	Global	Study-wide	376	G=0.316	C=0.684
HapMap	Global	Study-wide	324	G=0.506	C=0.494
HapMap	African	Sub	120	G=0.500	C=0.500
HapMap	American	Sub	118	G=0.644	C=0.356
HapMap	Asian	Sub	86	G=0.33	C=0.67
Qatari	Global	Study-wide	216	G=0.662	C=0.338
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.403	C=0.597
Siberian	Global	Study-wide	46	G=0.41	C=0.59
The Danish reference pan genome	Danish	Study-wide	40	G=0.50	C=0.50

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.45843748G>A
GRCh38.p14 chr 1	NC_000001.11:g.45843748G>C
GRCh37.p13 chr 1	NC_000001.10:g.46309420G>A
GRCh37.p13 chr 1	NC_000001.10:g.46309420G>C

Gene: MAST2, microtubule associated serine/threonine kinase 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAST2 transcript variant 2	NM_001319245.2:c.468+1416… NM_001319245.2:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant 3	NM_001324320.2:c.468+1416… NM_001324320.2:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant 1	NM_015112.3:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant 4	NM_001324321.2:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X1	XM_011541059.3:c.468+1416… XM_011541059.3:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X2	XM_011541061.3:c.468+1416… XM_011541061.3:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X3	XM_011541062.3:c.468+1416… XM_011541062.3:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X5	XM_011541063.2:c.318+1416… XM_011541063.2:c.318+14167G>A	N/A	Intron Variant
MAST2 transcript variant X6	XM_011541064.3:c.309+1416… XM_011541064.3:c.309+14167G>A	N/A	Intron Variant
MAST2 transcript variant X24	XM_011541069.3:c.468+1416… XM_011541069.3:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X4	XM_047450096.1:c.468+1416… XM_047450096.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X7	XM_047450105.1:c.309+1416… XM_047450105.1:c.309+14167G>A	N/A	Intron Variant
MAST2 transcript variant X8	XM_047450111.1:c.468+1416… XM_047450111.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X9	XM_047450116.1:c.318+1416… XM_047450116.1:c.318+14167G>A	N/A	Intron Variant
MAST2 transcript variant X10	XM_047450121.1:c.309+1416… XM_047450121.1:c.309+14167G>A	N/A	Intron Variant
MAST2 transcript variant X11	XM_047450122.1:c.318+1416… XM_047450122.1:c.318+14167G>A	N/A	Intron Variant
MAST2 transcript variant X12	XM_047450123.1:c.309+1416… XM_047450123.1:c.309+14167G>A	N/A	Intron Variant
MAST2 transcript variant X13	XM_047450129.1:c.309+1416… XM_047450129.1:c.309+14167G>A	N/A	Intron Variant
MAST2 transcript variant X25	XM_047450141.1:c.468+1416… XM_047450141.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X26	XM_047450142.1:c.468+1416… XM_047450142.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X27	XM_047450145.1:c.468+1416… XM_047450145.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X28	XM_047450149.1:c.468+1416… XM_047450149.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X29	XM_047450150.1:c.468+1416… XM_047450150.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X30	XM_047450153.1:c.468+1416… XM_047450153.1:c.468+14167G>A	N/A	Intron Variant
MAST2 transcript variant X15	XM_005270655.4:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X16	XM_005270656.6:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X20	XM_006710477.4:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X21	XM_011541067.3:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X22	XM_011541068.2:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X14	XM_017000752.2:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X18	XM_017000753.2:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X19	XM_017000755.2:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X17	XM_047450130.1:c.	N/A	Genic Upstream Transcript Variant
MAST2 transcript variant X23	XM_047450138.1:c.	N/A	Genic Upstream Transcript 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	G=	A	C
GRCh38.p14 chr 1	NC_000001.11:g.45843748=	NC_000001.11:g.45843748G>A	NC_000001.11:g.45843748G>C
GRCh37.p13 chr 1	NC_000001.10:g.46309420=	NC_000001.10:g.46309420G>A	NC_000001.10:g.46309420G>C
MAST2 transcript variant 2	NM_001319245.2:c.468+14167=	NM_001319245.2:c.468+14167G>A	NM_001319245.2:c.468+14167G>C
MAST2 transcript variant 3	NM_001324320.2:c.468+14167=	NM_001324320.2:c.468+14167G>A	NM_001324320.2:c.468+14167G>C
MAST2 transcript variant 1	NM_015112.2:c.468+14167=	NM_015112.2:c.468+14167G>A	NM_015112.2:c.468+14167G>C
MAST2 transcript variant 1	NM_015112.3:c.468+14167=	NM_015112.3:c.468+14167G>A	NM_015112.3:c.468+14167G>C
MAST2 transcript variant X1	XM_005270652.1:c.468+14167=	XM_005270652.1:c.468+14167G>A	XM_005270652.1:c.468+14167G>C
MAST2 transcript variant X2	XM_005270653.1:c.468+14167=	XM_005270653.1:c.468+14167G>A	XM_005270653.1:c.468+14167G>C
MAST2 transcript variant X3	XM_005270654.1:c.468+14167=	XM_005270654.1:c.468+14167G>A	XM_005270654.1:c.468+14167G>C
MAST2 transcript variant X8	XM_005270659.1:c.468+14167=	XM_005270659.1:c.468+14167G>A	XM_005270659.1:c.468+14167G>C
MAST2 transcript variant X1	XM_011541059.3:c.468+14167=	XM_011541059.3:c.468+14167G>A	XM_011541059.3:c.468+14167G>C
MAST2 transcript variant X2	XM_011541061.3:c.468+14167=	XM_011541061.3:c.468+14167G>A	XM_011541061.3:c.468+14167G>C
MAST2 transcript variant X3	XM_011541062.3:c.468+14167=	XM_011541062.3:c.468+14167G>A	XM_011541062.3:c.468+14167G>C
MAST2 transcript variant X5	XM_011541063.2:c.318+14167=	XM_011541063.2:c.318+14167G>A	XM_011541063.2:c.318+14167G>C
MAST2 transcript variant X6	XM_011541064.3:c.309+14167=	XM_011541064.3:c.309+14167G>A	XM_011541064.3:c.309+14167G>C
MAST2 transcript variant X24	XM_011541069.3:c.468+14167=	XM_011541069.3:c.468+14167G>A	XM_011541069.3:c.468+14167G>C
MAST2 transcript variant X4	XM_047450096.1:c.468+14167=	XM_047450096.1:c.468+14167G>A	XM_047450096.1:c.468+14167G>C
MAST2 transcript variant X7	XM_047450105.1:c.309+14167=	XM_047450105.1:c.309+14167G>A	XM_047450105.1:c.309+14167G>C
MAST2 transcript variant X8	XM_047450111.1:c.468+14167=	XM_047450111.1:c.468+14167G>A	XM_047450111.1:c.468+14167G>C
MAST2 transcript variant X9	XM_047450116.1:c.318+14167=	XM_047450116.1:c.318+14167G>A	XM_047450116.1:c.318+14167G>C
MAST2 transcript variant X10	XM_047450121.1:c.309+14167=	XM_047450121.1:c.309+14167G>A	XM_047450121.1:c.309+14167G>C
MAST2 transcript variant X11	XM_047450122.1:c.318+14167=	XM_047450122.1:c.318+14167G>A	XM_047450122.1:c.318+14167G>C
MAST2 transcript variant X12	XM_047450123.1:c.309+14167=	XM_047450123.1:c.309+14167G>A	XM_047450123.1:c.309+14167G>C
MAST2 transcript variant X13	XM_047450129.1:c.309+14167=	XM_047450129.1:c.309+14167G>A	XM_047450129.1:c.309+14167G>C
MAST2 transcript variant X25	XM_047450141.1:c.468+14167=	XM_047450141.1:c.468+14167G>A	XM_047450141.1:c.468+14167G>C
MAST2 transcript variant X26	XM_047450142.1:c.468+14167=	XM_047450142.1:c.468+14167G>A	XM_047450142.1:c.468+14167G>C
MAST2 transcript variant X27	XM_047450145.1:c.468+14167=	XM_047450145.1:c.468+14167G>A	XM_047450145.1:c.468+14167G>C
MAST2 transcript variant X28	XM_047450149.1:c.468+14167=	XM_047450149.1:c.468+14167G>A	XM_047450149.1:c.468+14167G>C
MAST2 transcript variant X29	XM_047450150.1:c.468+14167=	XM_047450150.1:c.468+14167G>A	XM_047450150.1:c.468+14167G>C
MAST2 transcript variant X30	XM_047450153.1:c.468+14167=	XM_047450153.1:c.468+14167G>A	XM_047450153.1:c.468+14167G>C

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#.

68 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss9900727	Jul 11, 2003 (116)
2	ABI	ss41205240	Mar 13, 2006 (126)
3	HUMANGENOME_JCVI	ss99204733	Feb 02, 2009 (130)
4	BGI	ss102738249	Dec 01, 2009 (131)
5	1000GENOMES	ss108167737	Jan 23, 2009 (130)
6	ILLUMINA-UK	ss118660720	Feb 14, 2009 (130)
7	GMI	ss154941850	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss163339038	Jul 04, 2010 (132)
9	BUSHMAN	ss198390575	Jul 04, 2010 (132)
10	BCM-HGSC-SUB	ss205350371	Jul 04, 2010 (132)
11	1000GENOMES	ss210515855	Jul 14, 2010 (132)
12	1000GENOMES	ss218356502	Jul 14, 2010 (132)
13	1000GENOMES	ss230514435	Jul 14, 2010 (132)
14	1000GENOMES	ss238212946	Jul 15, 2010 (132)
15	GMI	ss275806497	May 04, 2012 (137)
16	PJP	ss290502020	May 09, 2011 (134)
17	TISHKOFF	ss554058607	Apr 25, 2013 (138)
18	SSMP	ss647852565	Apr 25, 2013 (138)
19	EVA-GONL	ss975100904	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1067843000	Aug 21, 2014 (142)
21	1000GENOMES	ss1290650844	Aug 21, 2014 (142)
22	DDI	ss1425791303	Apr 01, 2015 (144)
23	EVA_GENOME_DK	ss1574026342	Apr 01, 2015 (144)
24	EVA_DECODE	ss1584464895	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1600048953	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1643042986	Apr 01, 2015 (144)
27	EVA_MGP	ss1710903589	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1794275468	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1918309111	Feb 12, 2016 (147)
30	GENOMED	ss1966734609	Jul 19, 2016 (147)
31	JJLAB	ss2019670051	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2147682221	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2162002546	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2624349468	Nov 08, 2017 (151)
35	GRF	ss2697592354	Nov 08, 2017 (151)
36	GNOMAD	ss2754452064	Nov 08, 2017 (151)
37	SWEGEN	ss2986719239	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3023597588	Nov 08, 2017 (151)
39	CSHL	ss3343430226	Nov 08, 2017 (151)
40	URBANLAB	ss3646652243	Oct 11, 2018 (152)
41	EGCUT_WGS	ss3654784115	Jul 12, 2019 (153)
42	EVA_DECODE	ss3686655931	Jul 12, 2019 (153)
43	ACPOP	ss3726997244	Jul 12, 2019 (153)
44	EVA	ss3746129241	Jul 12, 2019 (153)
45	PACBIO	ss3783394443	Jul 12, 2019 (153)
46	PACBIO	ss3789055769	Jul 12, 2019 (153)
47	PACBIO	ss3793928413	Jul 12, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3799141603	Jul 12, 2019 (153)
49	EVA	ss3825563749	Apr 25, 2020 (154)
50	EVA	ss3826144698	Apr 25, 2020 (154)
51	EVA	ss3836459672	Apr 25, 2020 (154)
52	EVA	ss3841865411	Apr 25, 2020 (154)
53	SGDP_PRJ	ss3848725333	Apr 25, 2020 (154)
54	KRGDB	ss3893709961	Apr 25, 2020 (154)
55	KOGIC	ss3944383945	Apr 25, 2020 (154)
56	TOPMED	ss4447549565	Apr 25, 2021 (155)
57	TOMMO_GENOMICS	ss5143667757	Apr 25, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5242060082	Oct 17, 2022 (156)
59	HUGCELL_USP	ss5443146638	Oct 17, 2022 (156)
60	EVA	ss5505831056	Oct 17, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5514227419	Oct 17, 2022 (156)
62	SANFORD_IMAGENETICS	ss5625411963	Oct 17, 2022 (156)
63	TOMMO_GENOMICS	ss5668353300	Oct 17, 2022 (156)
64	YY_MCH	ss5800543712	Oct 17, 2022 (156)
65	EVA	ss5831879574	Oct 17, 2022 (156)
66	EVA	ss5848883013	Oct 17, 2022 (156)
67	EVA	ss5908017633	Oct 17, 2022 (156)
68	EVA	ss5937238440	Oct 17, 2022 (156)
69	1000Genomes	NC_000001.10 - 46309420	Oct 11, 2018 (152)
70	1000Genomes_30x	NC_000001.11 - 45843748	Oct 17, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 46309420	Oct 11, 2018 (152)
72	Genetic variation in the Estonian population	NC_000001.10 - 46309420	Oct 11, 2018 (152)
73	The Danish reference pan genome	NC_000001.10 - 46309420	Apr 25, 2020 (154)
74	gnomAD - Genomes	NC_000001.11 - 45843748	Apr 25, 2021 (155)
75	Genome of the Netherlands Release 5	NC_000001.10 - 46309420	Apr 25, 2020 (154)
76	HapMap	NC_000001.11 - 45843748	Apr 25, 2020 (154)
77	KOREAN population from KRGDB	NC_000001.10 - 46309420	Apr 25, 2020 (154)
78	Korean Genome Project	NC_000001.11 - 45843748	Apr 25, 2020 (154)
79	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 46309420	Apr 25, 2020 (154)
80	Northern Sweden	NC_000001.10 - 46309420	Jul 12, 2019 (153)
81	Qatari	NC_000001.10 - 46309420	Apr 25, 2020 (154)
82	SGDP_PRJ	NC_000001.10 - 46309420	Apr 25, 2020 (154)
83	Siberian	NC_000001.10 - 46309420	Apr 25, 2020 (154)
84	8.3KJPN	NC_000001.10 - 46309420	Apr 25, 2021 (155)
85	14KJPN	NC_000001.11 - 45843748	Oct 17, 2022 (156)
86	TopMed	NC_000001.11 - 45843748	Apr 25, 2021 (155)
87	UK 10K study - Twins	NC_000001.10 - 46309420	Oct 11, 2018 (152)
88	A Vietnamese Genetic Variation Database	NC_000001.10 - 46309420	Jul 12, 2019 (153)
89	ALFA	NC_000001.11 - 45843748	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
887355, ss3893709961	NC_000001.10:46309419:G:A	NC_000001.11:45843747:G:A	(self)
ss108167737, ss118660720, ss163339038, ss198390575, ss205350371, ss210515855, ss275806497, ss290502020, ss1584464895	NC_000001.9:46082006:G:C	NC_000001.11:45843747:G:C	(self)
1360819, 739455, 522363, 1480816, 314307, 887355, 20341, 282109, 351041, 742313, 198575, 1637064, 739455, 151544, ss218356502, ss230514435, ss238212946, ss554058607, ss647852565, ss975100904, ss1067843000, ss1290650844, ss1425791303, ss1574026342, ss1600048953, ss1643042986, ss1710903589, ss1794275468, ss1918309111, ss1966734609, ss2019670051, ss2147682221, ss2624349468, ss2697592354, ss2754452064, ss2986719239, ss3343430226, ss3654784115, ss3726997244, ss3746129241, ss3783394443, ss3789055769, ss3793928413, ss3825563749, ss3826144698, ss3836459672, ss3848725333, ss3893709961, ss5143667757, ss5505831056, ss5625411963, ss5831879574, ss5937238440	NC_000001.10:46309419:G:C	NC_000001.11:45843747:G:C	(self)
1753354, 9605587, 57501, 761946, 2190404, 11155900, 7981899269, ss2162002546, ss3023597588, ss3646652243, ss3686655931, ss3799141603, ss3841865411, ss3944383945, ss4447549565, ss5242060082, ss5443146638, ss5514227419, ss5668353300, ss5800543712, ss5848883013, ss5908017633	NC_000001.11:45843747:G:C	NC_000001.11:45843747:G:C	(self)
ss9900727	NT_004852.15:2648685:G:C	NC_000001.11:45843747:G:C	(self)
ss41205240, ss99204733, ss102738249, ss154941850	NT_032977.9:16281337:G:C	NC_000001.11:45843747:G:C	(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 rs6701614

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6701614