Name: rs10484314
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.

rs10484314

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:5647854 (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>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.307730 (81453/264690, TOPMED)
G=0.337486 (69782/206770, ALFA)
G=0.342000 (70136/205076, GENOGRAPHIC) (+ 23 more)
G=0.296599 (41534/140034, GnomAD)
G=0.32960 (25905/78596, PAGE_STUDY)
A=0.37812 (10685/28258, 14KJPN)
A=0.38150 (6394/16760, 8.3KJPN)
G=0.3930 (2517/6404, 1000G_30x)
G=0.3982 (1994/5008, 1000G)
G=0.3547 (1589/4480, Estonian)
G=0.3134 (1208/3854, ALSPAC)
G=0.3182 (1180/3708, TWINSUK)
A=0.4416 (1294/2930, KOREAN)
G=0.4635 (965/2082, HGDP_Stanford)
G=0.3757 (704/1874, HapMap)
A=0.4460 (817/1832, Korea1K)
G=0.279 (278/998, GoNL)
A=0.426 (336/788, PRJEB37584)
G=0.484 (303/626, Chileans)
G=0.347 (208/600, NorthernSweden)
A=0.330 (134/406, SGDP_PRJ)
G=0.458 (99/216, Qatari)
A=0.50 (32/64, Ancient Sardinia)
G=0.50 (32/64, Ancient Sardinia)
A=0.25 (11/44, Siberian)
G=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FARS2 : 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	206770	A=0.662514	G=0.337486, T=0.000000
European	Sub	175610	A=0.666631	G=0.333369, T=0.000000
African	Sub	8008	A=0.8192	G=0.1808, T=0.0000
African Others	Sub	270	A=0.859	G=0.141, T=0.000
African American	Sub	7738	A=0.8178	G=0.1822, T=0.0000
Asian	Sub	780	A=0.449	G=0.551, T=0.000
East Asian	Sub	604	A=0.460	G=0.540, T=0.000
Other Asian	Sub	176	A=0.409	G=0.591, T=0.000
Latin American 1	Sub	982	A=0.679	G=0.321, T=0.000
Latin American 2	Sub	9042	A=0.5591	G=0.4409, T=0.0000
South Asian	Sub	5052	A=0.5148	G=0.4852, T=0.0000
Other	Sub	7296	A=0.6425	G=0.3575, T=0.0000

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=0.692270	G=0.307730
Allele Frequency Aggregator	Total	Global	206770	A=0.662514	G=0.337486, T=0.000000
Allele Frequency Aggregator	European	Sub	175610	A=0.666631	G=0.333369, T=0.000000
Allele Frequency Aggregator	Latin American 2	Sub	9042	A=0.5591	G=0.4409, T=0.0000
Allele Frequency Aggregator	African	Sub	8008	A=0.8192	G=0.1808, T=0.0000
Allele Frequency Aggregator	Other	Sub	7296	A=0.6425	G=0.3575, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5052	A=0.5148	G=0.4852, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	982	A=0.679	G=0.321, T=0.000
Allele Frequency Aggregator	Asian	Sub	780	A=0.449	G=0.551, T=0.000
Genographic Project	Global	Study-wide	205076	A=0.658000	G=0.342000, T=0.000000
gnomAD - Genomes	Global	Study-wide	140034	A=0.703401	G=0.296599
gnomAD - Genomes	European	Sub	75836	A=0.67120	G=0.32880
gnomAD - Genomes	African	Sub	41966	A=0.81773	G=0.18227
gnomAD - Genomes	American	Sub	13648	A=0.62148	G=0.37852
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.6208	G=0.3792
gnomAD - Genomes	East Asian	Sub	3116	A=0.4211	G=0.5789
gnomAD - Genomes	Other	Sub	2148	A=0.6643	G=0.3357
The PAGE Study	Global	Study-wide	78596	A=0.67040	G=0.32960
The PAGE Study	AfricanAmerican	Sub	32470	A=0.81420	G=0.18580
The PAGE Study	Mexican	Sub	10788	A=0.55423	G=0.44577
The PAGE Study	Asian	Sub	8312	A=0.3903	G=0.6097
The PAGE Study	PuertoRican	Sub	7910	A=0.6949	G=0.3051
The PAGE Study	NativeHawaiian	Sub	4534	A=0.4592	G=0.5408
The PAGE Study	Cuban	Sub	4220	A=0.6607	G=0.3393
The PAGE Study	Dominican	Sub	3822	A=0.7211	G=0.2789
The PAGE Study	CentralAmerican	Sub	2448	A=0.6262	G=0.3738
The PAGE Study	SouthAmerican	Sub	1980	A=0.5838	G=0.4162
The PAGE Study	NativeAmerican	Sub	1258	A=0.6455	G=0.3545
The PAGE Study	SouthAsian	Sub	854	A=0.477	G=0.523
14KJPN	JAPANESE	Study-wide	28258	A=0.37812	G=0.62188
8.3KJPN	JAPANESE	Study-wide	16760	A=0.38150	G=0.61850
1000Genomes_30x	Global	Study-wide	6404	A=0.6070	G=0.3930
1000Genomes_30x	African	Sub	1786	A=0.8264	G=0.1736
1000Genomes_30x	Europe	Sub	1266	A=0.6272	G=0.3728
1000Genomes_30x	South Asian	Sub	1202	A=0.4642	G=0.5358
1000Genomes_30x	East Asian	Sub	1170	A=0.4248	G=0.5752
1000Genomes_30x	American	Sub	980	A=0.573	G=0.427
1000Genomes	Global	Study-wide	5008	A=0.6018	G=0.3982
1000Genomes	African	Sub	1322	A=0.8283	G=0.1717
1000Genomes	East Asian	Sub	1008	A=0.4196	G=0.5804
1000Genomes	Europe	Sub	1006	A=0.6312	G=0.3688
1000Genomes	South Asian	Sub	978	A=0.475	G=0.525
1000Genomes	American	Sub	694	A=0.571	G=0.429
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6453	G=0.3547
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6866	G=0.3134
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6818	G=0.3182
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4416	G=0.5584, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	A=0.5365	G=0.4635
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	A=0.359	G=0.641
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.500	G=0.500
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.534	G=0.466
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.672	G=0.328
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.876	G=0.124
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.556	G=0.444
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.11	G=0.89
HapMap	Global	Study-wide	1874	A=0.6243	G=0.3757
HapMap	American	Sub	762	A=0.564	G=0.436
HapMap	African	Sub	682	A=0.774	G=0.226
HapMap	Asian	Sub	254	A=0.433	G=0.567
HapMap	Europe	Sub	176	A=0.580	G=0.420
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4460	G=0.5540
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.721	G=0.279
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.426	G=0.574
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.426	G=0.574
Chileans	Chilean	Study-wide	626	A=0.516	G=0.484
Northern Sweden	ACPOP	Study-wide	600	A=0.653	G=0.347
SGDP_PRJ	Global	Study-wide	406	A=0.330	G=0.670
Qatari	Global	Study-wide	216	A=0.542	G=0.458
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	A=0.50	G=0.50
Siberian	Global	Study-wide	44	A=0.25	G=0.75
The Danish reference pan genome	Danish	Study-wide	40	A=0.65	G=0.35

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.5647854A>G
GRCh38.p14 chr 6	NC_000006.12:g.5647854A>T
GRCh37.p13 chr 6	NC_000006.11:g.5648087A>G
GRCh37.p13 chr 6	NC_000006.11:g.5648087A>T
FARS2 RefSeqGene	NG_033003.2:g.391504A>G
FARS2 RefSeqGene	NG_033003.2:g.391504A>T

Gene: FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FARS2 transcript variant 1	NM_001318872.2:c.1217+345… NM_001318872.2:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant 3	NM_001374875.1:c.1217+345… NM_001374875.1:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant 4	NM_001374876.1:c.1217+345… NM_001374876.1:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant 5	NM_001374877.1:c.1217+345… NM_001374877.1:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant 6	NM_001374878.1:c.1217+345… NM_001374878.1:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant 7	NM_001374879.1:c.1217+345… NM_001374879.1:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant 8	NM_001375257.1:c.1217+345… NM_001375257.1:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant 9	NM_001375258.1:c.1085+345… NM_001375258.1:c.1085+34534A>G	N/A	Intron Variant
FARS2 transcript variant 10	NM_001375259.1:c.521+3453… NM_001375259.1:c.521+34534A>G	N/A	Intron Variant
FARS2 transcript variant 11	NM_001375260.1:c.521+3453… NM_001375260.1:c.521+34534A>G	N/A	Intron Variant
FARS2 transcript variant 2	NM_006567.5:c.1217+34534A… NM_006567.5:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant X3	XM_011514248.4:c.1217+345… XM_011514248.4:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant X4	XM_011514249.3:c.1218-323… XM_011514249.3:c.1218-3235A>G	N/A	Intron Variant
FARS2 transcript variant X1	XM_047418086.1:c.1217+345… XM_047418086.1:c.1217+34534A>G	N/A	Intron Variant
FARS2 transcript variant X10	XM_006714966.4:c.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X2	XM_011514247.4:c.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X8	XM_011514251.4:c.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X11	XM_047418087.1:c.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X6	XR_007059196.1:n.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X7	XR_007059197.1:n.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X9	XR_007059198.1:n.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X12	XR_007059199.1:n.	N/A	Genic Downstream Transcript Variant
FARS2 transcript variant X5	XR_926027.4:n.	N/A	Genic Downstream 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	A=	G	T
GRCh38.p14 chr 6	NC_000006.12:g.5647854=	NC_000006.12:g.5647854A>G	NC_000006.12:g.5647854A>T
GRCh37.p13 chr 6	NC_000006.11:g.5648087=	NC_000006.11:g.5648087A>G	NC_000006.11:g.5648087A>T
FARS2 RefSeqGene	NG_033003.2:g.391504=	NG_033003.2:g.391504A>G	NG_033003.2:g.391504A>T
FARS2 transcript variant 1	NM_001318872.2:c.1217+34534=	NM_001318872.2:c.1217+34534A>G	NM_001318872.2:c.1217+34534A>T
FARS2 transcript variant 3	NM_001374875.1:c.1217+34534=	NM_001374875.1:c.1217+34534A>G	NM_001374875.1:c.1217+34534A>T
FARS2 transcript variant 4	NM_001374876.1:c.1217+34534=	NM_001374876.1:c.1217+34534A>G	NM_001374876.1:c.1217+34534A>T
FARS2 transcript variant 5	NM_001374877.1:c.1217+34534=	NM_001374877.1:c.1217+34534A>G	NM_001374877.1:c.1217+34534A>T
FARS2 transcript variant 6	NM_001374878.1:c.1217+34534=	NM_001374878.1:c.1217+34534A>G	NM_001374878.1:c.1217+34534A>T
FARS2 transcript variant 7	NM_001374879.1:c.1217+34534=	NM_001374879.1:c.1217+34534A>G	NM_001374879.1:c.1217+34534A>T
FARS2 transcript variant 8	NM_001375257.1:c.1217+34534=	NM_001375257.1:c.1217+34534A>G	NM_001375257.1:c.1217+34534A>T
FARS2 transcript variant 9	NM_001375258.1:c.1085+34534=	NM_001375258.1:c.1085+34534A>G	NM_001375258.1:c.1085+34534A>T
FARS2 transcript variant 10	NM_001375259.1:c.521+34534=	NM_001375259.1:c.521+34534A>G	NM_001375259.1:c.521+34534A>T
FARS2 transcript variant 11	NM_001375260.1:c.521+34534=	NM_001375260.1:c.521+34534A>G	NM_001375260.1:c.521+34534A>T
FARS2 transcript	NM_006567.3:c.1217+34534=	NM_006567.3:c.1217+34534A>G	NM_006567.3:c.1217+34534A>T
FARS2 transcript variant 2	NM_006567.5:c.1217+34534=	NM_006567.5:c.1217+34534A>G	NM_006567.5:c.1217+34534A>T
FARS2 transcript variant X2	XM_005248811.1:c.1217+34534=	XM_005248811.1:c.1217+34534A>G	XM_005248811.1:c.1217+34534A>T
FARS2 transcript variant X2	XM_005248812.1:c.1217+34534=	XM_005248812.1:c.1217+34534A>G	XM_005248812.1:c.1217+34534A>T
FARS2 transcript variant X3	XM_011514248.4:c.1217+34534=	XM_011514248.4:c.1217+34534A>G	XM_011514248.4:c.1217+34534A>T
FARS2 transcript variant X4	XM_011514249.3:c.1218-3235=	XM_011514249.3:c.1218-3235A>G	XM_011514249.3:c.1218-3235A>T
FARS2 transcript variant X1	XM_047418086.1:c.1217+34534=	XM_047418086.1:c.1217+34534A>G	XM_047418086.1:c.1217+34534A>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#.

127 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss14869082	Dec 05, 2003 (119)
2	PERLEGEN	ss23912506	Sep 20, 2004 (123)
3	AFFY	ss66021768	Dec 01, 2006 (127)
4	AFFY	ss66507539	Dec 01, 2006 (127)
5	ILLUMINA	ss66697572	Dec 01, 2006 (127)
6	ILLUMINA	ss66885326	Dec 01, 2006 (127)
7	ILLUMINA	ss66982414	Dec 01, 2006 (127)
8	ILLUMINA	ss70367016	May 17, 2007 (127)
9	ILLUMINA	ss70481111	May 23, 2008 (130)
10	ILLUMINA	ss71004917	May 17, 2007 (127)
11	ILLUMINA	ss75669791	Dec 06, 2007 (129)
12	AFFY	ss76330346	Dec 06, 2007 (129)
13	KRIBB_YJKIM	ss84944306	Dec 14, 2007 (130)
14	BCMHGSC_JDW	ss93377796	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss98470151	Feb 03, 2009 (130)
16	BGI	ss104274485	Dec 01, 2009 (131)
17	1000GENOMES	ss109717396	Jan 24, 2009 (130)
18	ILLUMINA	ss121313376	Dec 01, 2009 (131)
19	ENSEMBL	ss139344321	Dec 01, 2009 (131)
20	ILLUMINA	ss152738180	Dec 01, 2009 (131)
21	GMI	ss156479321	Dec 01, 2009 (131)
22	ILLUMINA	ss159125999	Dec 01, 2009 (131)
23	ILLUMINA	ss159898534	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss161986761	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss166071512	Jul 04, 2010 (132)
26	ILLUMINA	ss169408608	Jul 04, 2010 (132)
27	ILLUMINA	ss170147867	Jul 04, 2010 (132)
28	1000GENOMES	ss222185074	Jul 14, 2010 (132)
29	1000GENOMES	ss233305815	Jul 14, 2010 (132)
30	1000GENOMES	ss240395182	Jul 15, 2010 (132)
31	GMI	ss278635681	May 04, 2012 (137)
32	GMI	ss285331208	Apr 25, 2013 (138)
33	PJP	ss293668571	May 09, 2011 (134)
34	ILLUMINA	ss479280337	May 04, 2012 (137)
35	ILLUMINA	ss479283331	May 04, 2012 (137)
36	ILLUMINA	ss479659965	Sep 08, 2015 (146)
37	ILLUMINA	ss484440708	May 04, 2012 (137)
38	ILLUMINA	ss536609718	Sep 08, 2015 (146)
39	TISHKOFF	ss558975579	Apr 25, 2013 (138)
40	SSMP	ss652885336	Apr 25, 2013 (138)
41	ILLUMINA	ss778732790	Aug 21, 2014 (142)
42	ILLUMINA	ss782666841	Aug 21, 2014 (142)
43	ILLUMINA	ss783635614	Aug 21, 2014 (142)
44	ILLUMINA	ss825336681	Apr 01, 2015 (144)
45	ILLUMINA	ss831917446	Apr 01, 2015 (144)
46	ILLUMINA	ss832638704	Aug 21, 2014 (142)
47	ILLUMINA	ss833229393	Aug 21, 2014 (142)
48	ILLUMINA	ss834192301	Aug 21, 2014 (142)
49	EVA-GONL	ss982539096	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1073347667	Aug 21, 2014 (142)
51	1000GENOMES	ss1318802534	Aug 21, 2014 (142)
52	DDI	ss1430623552	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1581513987	Apr 01, 2015 (144)
54	EVA_DECODE	ss1592085854	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1614858267	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1657852300	Apr 01, 2015 (144)
57	EVA_SVP	ss1712832044	Apr 01, 2015 (144)
58	ILLUMINA	ss1752643057	Sep 08, 2015 (146)
59	HAMMER_LAB	ss1804260851	Sep 08, 2015 (146)
60	WEILL_CORNELL_DGM	ss1925797423	Feb 12, 2016 (147)
61	ILLUMINA	ss1958858956	Feb 12, 2016 (147)
62	GENOMED	ss1970299956	Jul 19, 2016 (147)
63	JJLAB	ss2023513724	Sep 14, 2016 (149)
64	USC_VALOUEV	ss2151675957	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2281440418	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2626244904	Nov 08, 2017 (151)
67	ILLUMINA	ss2634393902	Nov 08, 2017 (151)
68	GRF	ss2707261304	Nov 08, 2017 (151)
69	GNOMAD	ss2835318236	Nov 08, 2017 (151)
70	SWEGEN	ss2998445937	Nov 08, 2017 (151)
71	ILLUMINA	ss3022570515	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3025540857	Nov 08, 2017 (151)
73	CSHL	ss3346815868	Nov 08, 2017 (151)
74	ILLUMINA	ss3625892933	Oct 12, 2018 (152)
75	ILLUMINA	ss3629433706	Oct 12, 2018 (152)
76	ILLUMINA	ss3632314436	Oct 12, 2018 (152)
77	ILLUMINA	ss3633404427	Oct 12, 2018 (152)
78	ILLUMINA	ss3634126361	Oct 12, 2018 (152)
79	ILLUMINA	ss3635042198	Oct 12, 2018 (152)
80	ILLUMINA	ss3635807734	Oct 12, 2018 (152)
81	ILLUMINA	ss3636756804	Oct 12, 2018 (152)
82	ILLUMINA	ss3637560447	Oct 12, 2018 (152)
83	ILLUMINA	ss3638604408	Oct 12, 2018 (152)
84	ILLUMINA	ss3639304858	Oct 12, 2018 (152)
85	ILLUMINA	ss3639677320	Oct 12, 2018 (152)
86	ILLUMINA	ss3640749493	Oct 12, 2018 (152)
87	ILLUMINA	ss3641190794	Oct 12, 2018 (152)
88	ILLUMINA	ss3641487888	Oct 12, 2018 (152)
89	ILLUMINA	ss3643546449	Oct 12, 2018 (152)
90	ILLUMINA	ss3644899403	Oct 12, 2018 (152)
91	URBANLAB	ss3648258923	Oct 12, 2018 (152)
92	ILLUMINA	ss3653078385	Oct 12, 2018 (152)
93	EGCUT_WGS	ss3666371114	Jul 13, 2019 (153)
94	EVA_DECODE	ss3716497868	Jul 13, 2019 (153)
95	ILLUMINA	ss3726306592	Jul 13, 2019 (153)
96	ACPOP	ss3733164679	Jul 13, 2019 (153)
97	ILLUMINA	ss3745342310	Jul 13, 2019 (153)
98	EVA	ss3764559645	Jul 13, 2019 (153)
99	PAGE_CC	ss3771259411	Jul 13, 2019 (153)
100	ILLUMINA	ss3772836130	Jul 13, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3807720942	Jul 13, 2019 (153)
102	EVA	ss3829709045	Apr 26, 2020 (154)
103	EVA	ss3838329158	Apr 26, 2020 (154)
104	EVA	ss3843769128	Apr 26, 2020 (154)
105	HGDP	ss3847821179	Apr 26, 2020 (154)
106	SGDP_PRJ	ss3863829307	Apr 26, 2020 (154)
107	KRGDB	ss3910564815	Apr 26, 2020 (154)
108	KOGIC	ss3958417858	Apr 26, 2020 (154)
109	EVA	ss3984560745	Apr 26, 2021 (155)
110	EVA	ss3985196587	Apr 26, 2021 (155)
111	TOPMED	ss4692254156	Apr 26, 2021 (155)
112	TOMMO_GENOMICS	ss5175967935	Apr 26, 2021 (155)
113	1000G_HIGH_COVERAGE	ss5267250582	Oct 17, 2022 (156)
114	GENOGRAPHIC	ss5314511533	Oct 17, 2022 (156)
115	EVA	ss5315118381	Oct 17, 2022 (156)
116	EVA	ss5363537765	Oct 17, 2022 (156)
117	HUGCELL_USP	ss5465057796	Oct 17, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5552605381	Oct 17, 2022 (156)
119	SANFORD_IMAGENETICS	ss5639681719	Oct 17, 2022 (156)
120	TOMMO_GENOMICS	ss5713580108	Oct 17, 2022 (156)
121	EVA	ss5799674627	Oct 17, 2022 (156)
122	YY_MCH	ss5807113942	Oct 17, 2022 (156)
123	EVA	ss5841733672	Oct 17, 2022 (156)
124	EVA	ss5848079286	Oct 17, 2022 (156)
125	EVA	ss5855183544	Oct 17, 2022 (156)
126	EVA	ss5882482722	Oct 17, 2022 (156)
127	EVA	ss5968176847	Oct 17, 2022 (156)
128	1000Genomes	NC_000006.11 - 5648087	Oct 12, 2018 (152)
129	1000Genomes_30x	NC_000006.12 - 5647854	Oct 17, 2022 (156)
130	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 5648087	Oct 12, 2018 (152)
131	Chileans	NC_000006.11 - 5648087	Apr 26, 2020 (154)
132	Genetic variation in the Estonian population	NC_000006.11 - 5648087	Oct 12, 2018 (152)
133	Genographic Project	NC_000006.12 - 5647854	Oct 17, 2022 (156)
134	The Danish reference pan genome	NC_000006.11 - 5648087	Apr 26, 2020 (154)
135	gnomAD - Genomes	NC_000006.12 - 5647854	Apr 26, 2021 (155)
136	Genome of the Netherlands Release 5	NC_000006.11 - 5648087	Apr 26, 2020 (154)
137	HGDP-CEPH-db Supplement 1	NC_000006.10 - 5593086	Apr 26, 2020 (154)
138	HapMap	NC_000006.12 - 5647854	Apr 26, 2020 (154)
139	KOREAN population from KRGDB	NC_000006.11 - 5648087	Apr 26, 2020 (154)
140	Korean Genome Project	NC_000006.12 - 5647854	Apr 26, 2020 (154)
141	Northern Sweden	NC_000006.11 - 5648087	Jul 13, 2019 (153)
142	The PAGE Study	NC_000006.12 - 5647854	Jul 13, 2019 (153)
143	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 5648087	Apr 26, 2021 (155)
144	CNV burdens in cranial meningiomas	NC_000006.11 - 5648087	Apr 26, 2021 (155)
145	Qatari	NC_000006.11 - 5648087	Apr 26, 2020 (154)
146	SGDP_PRJ	NC_000006.11 - 5648087	Apr 26, 2020 (154)
147	Siberian	NC_000006.11 - 5648087	Apr 26, 2020 (154)
148	8.3KJPN	NC_000006.11 - 5648087	Apr 26, 2021 (155)
149	14KJPN	NC_000006.12 - 5647854	Oct 17, 2022 (156)
150	TopMed	NC_000006.12 - 5647854	Apr 26, 2021 (155)
151	UK 10K study - Twins	NC_000006.11 - 5648087	Oct 12, 2018 (152)
152	ALFA	NC_000006.12 - 5647854	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)
rs56730764	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639304858, ss3639677320	NC_000006.9:5593085:A:G	NC_000006.12:5647853:A:G	(self)
499071, ss93377796, ss109717396, ss159898534, ss161986761, ss166071512, ss278635681, ss285331208, ss293668571, ss479280337, ss825336681, ss1592085854, ss1712832044, ss3643546449, ss3847821179	NC_000006.10:5593085:A:G	NC_000006.12:5647853:A:G	(self)
30538562, 17000486, 369792, 12109362, 7678926, 7545344, 17742209, 6449544, 422514, 110120, 7839353, 15846287, 4192311, 33937242, 17000486, ss222185074, ss233305815, ss240395182, ss479283331, ss479659965, ss484440708, ss536609718, ss558975579, ss652885336, ss778732790, ss782666841, ss783635614, ss831917446, ss832638704, ss833229393, ss834192301, ss982539096, ss1073347667, ss1318802534, ss1430623552, ss1581513987, ss1614858267, ss1657852300, ss1752643057, ss1804260851, ss1925797423, ss1958858956, ss1970299956, ss2023513724, ss2151675957, ss2626244904, ss2634393902, ss2707261304, ss2835318236, ss2998445937, ss3022570515, ss3346815868, ss3625892933, ss3629433706, ss3632314436, ss3633404427, ss3634126361, ss3635042198, ss3635807734, ss3636756804, ss3637560447, ss3638604408, ss3640749493, ss3641190794, ss3641487888, ss3644899403, ss3653078385, ss3666371114, ss3733164679, ss3745342310, ss3764559645, ss3772836130, ss3829709045, ss3838329158, ss3863829307, ss3910564815, ss3984560745, ss3985196587, ss5175967935, ss5315118381, ss5363537765, ss5639681719, ss5799674627, ss5841733672, ss5848079286, ss5968176847	NC_000006.11:5648086:A:G	NC_000006.12:5647853:A:G	(self)
40131316, 58457, 215897967, 3051105, 14795859, 480880, 47417212, 529631714, 11025570356, ss2281440418, ss3025540857, ss3648258923, ss3716497868, ss3726306592, ss3771259411, ss3807720942, ss3843769128, ss3958417858, ss4692254156, ss5267250582, ss5314511533, ss5465057796, ss5552605381, ss5713580108, ss5807113942, ss5855183544, ss5882482722	NC_000006.12:5647853:A:G	NC_000006.12:5647853:A:G	(self)
ss14869082, ss23912506, ss66021768, ss66507539, ss66697572, ss66885326, ss66982414, ss70367016, ss70481111, ss71004917, ss75669791, ss76330346, ss84944306, ss98470151, ss104274485, ss121313376, ss139344321, ss152738180, ss156479321, ss159125999, ss169408608, ss170147867	NT_007592.15:5588086:A:G	NC_000006.12:5647853:A:G	(self)
17742209, ss3910564815	NC_000006.11:5648086:A:T	NC_000006.12:5647853:A:T	(self)
58457, 11025570356, ss5314511533	NC_000006.12:5647853:A:T	NC_000006.12:5647853: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 rs10484314

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

rs10484314