Name: rs942379
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.

rs942379

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:25849392 (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: A=0.333345 (88233/264690, TOPMED)
A=0.400226 (100363/250766, GnomAD_exome)
A=0.466381 (109870/235580, ALFA) (+ 24 more)
A=0.398099 (47783/120028, ExAC)
A=0.15252 (4310/28258, 14KJPN)
A=0.15698 (2631/16760, 8.3KJPN)
A=0.36053 (4689/13006, GO-ESP)
A=0.2936 (1880/6404, 1000G_30x)
A=0.2969 (1487/5008, 1000G)
A=0.4665 (2090/4480, Estonian)
A=0.4632 (1785/3854, ALSPAC)
A=0.4539 (1683/3708, TWINSUK)
A=0.1358 (398/2930, KOREAN)
A=0.3402 (709/2084, HGDP_Stanford)
A=0.1381 (253/1832, Korea1K)
A=0.2840 (451/1588, HapMap)
G=0.4982 (566/1136, Daghestan)
A=0.479 (478/998, GoNL)
A=0.292 (179/612, Vietnamese)
A=0.447 (268/600, NorthernSweden)
A=0.459 (245/534, MGP)
A=0.226 (108/478, SGDP_PRJ)
A=0.431 (131/304, FINRISK)
A=0.407 (88/216, Qatari)
A=0.40 (20/50, Ancient Sardinia)
A=0.24 (12/50, Siberian)
A=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC17A3 : Missense Variant
LOC124901285 : Intron Variant
Publications: 4 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	239422	A=0.466394	G=0.533606, T=0.000000	0.225886	0.293098	0.481017	32
European	Sub	206796	A=0.479787	G=0.520213, T=0.000000	0.234376	0.274802	0.490822	16
African	Sub	7574	A=0.1517	G=0.8483, T=0.0000	0.027726	0.72432	0.247954	3
African Others	Sub	248	A=0.069	G=0.931, T=0.000	0.0	0.862903	0.137097	0
African American	Sub	7326	A=0.1545	G=0.8455, T=0.0000	0.028665	0.719629	0.251706	3
Asian	Sub	658	A=0.187	G=0.813, T=0.000	0.030395	0.656535	0.31307	0
East Asian	Sub	502	A=0.171	G=0.829, T=0.000	0.023904	0.681275	0.294821	0
Other Asian	Sub	156	A=0.237	G=0.763, T=0.000	0.051282	0.576923	0.371795	0
Latin American 1	Sub	1012	A=0.3715	G=0.6285, T=0.0000	0.13834	0.395257	0.466403	0
Latin American 2	Sub	2302	A=0.3562	G=0.6438, T=0.0000	0.139878	0.427454	0.432667	2
South Asian	Sub	4966	A=0.5075	G=0.4925, T=0.0000	0.268224	0.253323	0.478453	3
Other	Sub	16114	A=0.46289	G=0.53711, T=0.00000	0.222788	0.297009	0.480204	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=0.333345	G=0.666655
gnomAD - Exomes	Global	Study-wide	250766	A=0.400226	G=0.599774
gnomAD - Exomes	European	Sub	134892	A=0.461910	G=0.538090
gnomAD - Exomes	Asian	Sub	48904	A=0.36690	G=0.63310
gnomAD - Exomes	American	Sub	34546	A=0.28672	G=0.71328
gnomAD - Exomes	African	Sub	16230	A=0.12575	G=0.87425
gnomAD - Exomes	Ashkenazi Jewish	Sub	10074	A=0.54258	G=0.45742
gnomAD - Exomes	Other	Sub	6120	A=0.4412	G=0.5588
Allele Frequency Aggregator	Total	Global	235580	A=0.466381	G=0.533619, T=0.000000
Allele Frequency Aggregator	European	Sub	203180	A=0.480042	G=0.519958, T=0.000000
Allele Frequency Aggregator	Other	Sub	15890	A=0.46237	G=0.53763, T=0.00000
Allele Frequency Aggregator	African	Sub	7572	A=0.1517	G=0.8483, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	4966	A=0.5075	G=0.4925, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2302	A=0.3562	G=0.6438, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1012	A=0.3715	G=0.6285, T=0.0000
Allele Frequency Aggregator	Asian	Sub	658	A=0.187	G=0.813, T=0.000
ExAC	Global	Study-wide	120028	A=0.398099	G=0.601901
ExAC	Europe	Sub	72326	A=0.46496	G=0.53504
ExAC	Asian	Sub	24896	A=0.37171	G=0.62829
ExAC	American	Sub	11526	A=0.27434	G=0.72566
ExAC	African	Sub	10378	A=0.12912	G=0.87088
ExAC	Other	Sub	902	A=0.441	G=0.559
14KJPN	JAPANESE	Study-wide	28258	A=0.15252	G=0.84748
8.3KJPN	JAPANESE	Study-wide	16760	A=0.15698	G=0.84302
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.36053	G=0.63947
GO Exome Sequencing Project	European American	Sub	8600	A=0.4706	G=0.5294
GO Exome Sequencing Project	African American	Sub	4406	A=0.1457	G=0.8543
1000Genomes_30x	Global	Study-wide	6404	A=0.2936	G=0.7064
1000Genomes_30x	African	Sub	1786	A=0.0778	G=0.9222
1000Genomes_30x	Europe	Sub	1266	A=0.4573	G=0.5427
1000Genomes_30x	South Asian	Sub	1202	A=0.5216	G=0.4784
1000Genomes_30x	East Asian	Sub	1170	A=0.1872	G=0.8128
1000Genomes_30x	American	Sub	980	A=0.322	G=0.678
1000Genomes	Global	Study-wide	5008	A=0.2969	G=0.7031
1000Genomes	African	Sub	1322	A=0.0802	G=0.9198
1000Genomes	East Asian	Sub	1008	A=0.1895	G=0.8105
1000Genomes	Europe	Sub	1006	A=0.4612	G=0.5388
1000Genomes	South Asian	Sub	978	A=0.522	G=0.478
1000Genomes	American	Sub	694	A=0.310	G=0.690
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4665	G=0.5335
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4632	G=0.5368
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4539	G=0.5461
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.1358	G=0.8642
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.3402	G=0.6598
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.217	G=0.783
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.507	G=0.493
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.503	G=0.497
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.506	G=0.494
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.054	G=0.946
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.060	G=0.940
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.46	G=0.54
Korean Genome Project	KOREAN	Study-wide	1832	A=0.1381	G=0.8619
HapMap	Global	Study-wide	1588	A=0.2840	G=0.7160
HapMap	American	Sub	744	A=0.366	G=0.634
HapMap	African	Sub	580	A=0.103	G=0.897
HapMap	Europe	Sub	176	A=0.597	G=0.403
HapMap	Asian	Sub	88	A=0.16	G=0.84
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.5018	G=0.4982
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.505	G=0.495
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.472	G=0.528
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.451	G=0.549
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.472	G=0.528
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.58	G=0.42
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.61	G=0.39
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.479	G=0.521
A Vietnamese Genetic Variation Database	Global	Study-wide	612	A=0.292	G=0.708
Northern Sweden	ACPOP	Study-wide	600	A=0.447	G=0.553
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.459	G=0.541
SGDP_PRJ	Global	Study-wide	478	A=0.226	G=0.774
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.431	G=0.569
Qatari	Global	Study-wide	216	A=0.407	G=0.593
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	50	A=0.40	G=0.60
Siberian	Global	Study-wide	50	A=0.24	G=0.76
The Danish reference pan genome	Danish	Study-wide	40	A=0.45	G=0.55

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.25849392A>G
GRCh38.p14 chr 6	NC_000006.12:g.25849392A>T
GRCh37.p13 chr 6	NC_000006.11:g.25849620A>G
GRCh37.p13 chr 6	NC_000006.11:g.25849620A>T
SLC17A3 RefSeqGene	NG_032922.1:g.29852T>C
SLC17A3 RefSeqGene	NG_032922.1:g.29852T>A

Gene: SLC17A3, solute carrier family 17 member 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC17A3 transcript variant 1	NM_001098486.2:c.1344T>C	S [AGT] > S [AGC]	Coding Sequence Variant
sodium-dependent phosphate transport protein 4 isoform a	NP_001091956.1:p.Ser448=	S (Ser) > S (Ser)	Synonymous Variant
SLC17A3 transcript variant 1	NM_001098486.2:c.1344T>A	S [AGT] > R [AGA]	Coding Sequence Variant
sodium-dependent phosphate transport protein 4 isoform a	NP_001091956.1:p.Ser448Arg	S (Ser) > R (Arg)	Missense Variant
SLC17A3 transcript variant 2	NM_006632.4:c.1110T>C	S [AGT] > S [AGC]	Coding Sequence Variant
sodium-dependent phosphate transport protein 4 isoform b	NP_006623.2:p.Ser370=	S (Ser) > S (Ser)	Synonymous Variant
SLC17A3 transcript variant 2	NM_006632.4:c.1110T>A	S [AGT] > R [AGA]	Coding Sequence Variant
sodium-dependent phosphate transport protein 4 isoform b	NP_006623.2:p.Ser370Arg	S (Ser) > R (Arg)	Missense Variant

Gene: LOC124901285, uncharacterized LOC124901285 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124901285 transcript	XR_007059518.1: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=	G	T
GRCh38.p14 chr 6	NC_000006.12:g.25849392=	NC_000006.12:g.25849392A>G	NC_000006.12:g.25849392A>T
GRCh37.p13 chr 6	NC_000006.11:g.25849620=	NC_000006.11:g.25849620A>G	NC_000006.11:g.25849620A>T
SLC17A3 RefSeqGene	NG_032922.1:g.29852=	NG_032922.1:g.29852T>C	NG_032922.1:g.29852T>A
SLC17A3 transcript variant 2	NM_006632.4:c.1110=	NM_006632.4:c.1110T>C	NM_006632.4:c.1110T>A
SLC17A3 transcript variant 2	NM_006632.3:c.1110=	NM_006632.3:c.1110T>C	NM_006632.3:c.1110T>A
SLC17A3 transcript variant 1	NM_001098486.2:c.1344=	NM_001098486.2:c.1344T>C	NM_001098486.2:c.1344T>A
SLC17A3 transcript variant 1	NM_001098486.1:c.1344=	NM_001098486.1:c.1344T>C	NM_001098486.1:c.1344T>A
sodium-dependent phosphate transport protein 4 isoform b	NP_006623.2:p.Ser370=	NP_006623.2:p.Ser370=	NP_006623.2:p.Ser370Arg
sodium-dependent phosphate transport protein 4 isoform a	NP_001091956.1:p.Ser448=	NP_001091956.1:p.Ser448=	NP_001091956.1:p.Ser448Arg

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#.

180 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1383358	Oct 05, 2000 (86)
2	KWOK	ss1581355	Oct 18, 2000 (87)
3	SC_JCM	ss2594607	Nov 09, 2000 (92)
4	YUSUKE	ss4922877	Aug 28, 2002 (108)
5	BCM_SSAHASNP	ss10347511	Jul 11, 2003 (116)
6	WI_SSAHASNP	ss11840495	Jul 11, 2003 (116)
7	SC_SNP	ss13083570	Dec 05, 2003 (119)
8	PERLEGEN	ss24429058	Sep 20, 2004 (123)
9	MGC_GENOME_DIFF	ss28505887	Sep 24, 2004 (126)
10	ABI	ss44749385	Mar 11, 2006 (126)
11	APPLERA_GI	ss48417375	Mar 11, 2006 (126)
12	ILLUMINA	ss65736046	Oct 16, 2006 (127)
13	KRIBB_YJKIM	ss65842502	Dec 01, 2006 (127)
14	ILLUMINA	ss66568038	Dec 01, 2006 (127)
15	ILLUMINA	ss67916943	Dec 01, 2006 (127)
16	ILLUMINA	ss68042315	Dec 01, 2006 (127)
17	CSHL-HAPMAP	ss68388947	Jan 12, 2007 (127)
18	ILLUMINA	ss71606979	May 17, 2007 (127)
19	ILLUMINA	ss75748274	Dec 06, 2007 (129)
20	SI_EXO	ss76888498	Dec 06, 2007 (129)
21	ILLUMINA	ss79296279	Dec 14, 2007 (130)
22	HGSV	ss79964589	Dec 14, 2007 (130)
23	KRIBB_YJKIM	ss83623556	Dec 14, 2007 (130)
24	HGSV	ss85442178	Dec 14, 2007 (130)
25	BCMHGSC_JDW	ss93427203	Mar 24, 2008 (129)
26	ILLUMINA	ss98258473	May 24, 2008 (130)
27	HUMANGENOME_JCVI	ss98482125	Feb 04, 2009 (130)
28	BGI	ss105987820	Feb 04, 2009 (130)
29	1000GENOMES	ss109846530	Jan 24, 2009 (130)
30	1000GENOMES	ss114057551	Jan 25, 2009 (130)
31	ILLUMINA-UK	ss116362883	Feb 14, 2009 (130)
32	ILLUMINA	ss122991286	Dec 01, 2009 (131)
33	ENSEMBL	ss143810895	Dec 01, 2009 (131)
34	ILLUMINA	ss154493502	Dec 01, 2009 (131)
35	GMI	ss156665833	Dec 01, 2009 (131)
36	ILLUMINA	ss159667495	Dec 01, 2009 (131)
37	SEATTLESEQ	ss159711385	Dec 01, 2009 (131)
38	ILLUMINA	ss160986513	Dec 01, 2009 (131)
39	COMPLETE_GENOMICS	ss162138746	Jul 04, 2010 (132)
40	COMPLETE_GENOMICS	ss163274118	Jul 04, 2010 (132)
41	COMPLETE_GENOMICS	ss166329024	Jul 04, 2010 (132)
42	ILLUMINA	ss172463585	Jul 04, 2010 (132)
43	ILLUMINA	ss174840623	Jul 04, 2010 (132)
44	BUSHMAN	ss201555562	Jul 04, 2010 (132)
45	BCM-HGSC-SUB	ss207688997	Jul 04, 2010 (132)
46	1000GENOMES	ss217320156	Jul 14, 2010 (132)
47	1000GENOMES	ss217395784	Jul 14, 2010 (132)
48	1000GENOMES	ss217397300	Jul 14, 2010 (132)
49	1000GENOMES	ss217405267	Jul 14, 2010 (132)
50	1000GENOMES	ss217415941	Jul 14, 2010 (132)
51	1000GENOMES	ss217416440	Jul 14, 2010 (132)
52	1000GENOMES	ss217419826	Jul 14, 2010 (132)
53	1000GENOMES	ss222271766	Jul 14, 2010 (132)
54	1000GENOMES	ss233370054	Jul 14, 2010 (132)
55	1000GENOMES	ss240444007	Jul 15, 2010 (132)
56	BL	ss254130549	May 09, 2011 (134)
57	GMI	ss278696590	May 04, 2012 (137)
58	GMI	ss285361177	Apr 25, 2013 (138)
59	PJP	ss293812702	May 09, 2011 (134)
60	NHLBI-ESP	ss342202820	May 09, 2011 (134)
61	ILLUMINA	ss481897385	May 04, 2012 (137)
62	ILLUMINA	ss481930500	May 04, 2012 (137)
63	ILLUMINA	ss482888030	Sep 08, 2015 (146)
64	ILLUMINA	ss485742698	May 04, 2012 (137)
65	1000GENOMES	ss490920831	May 04, 2012 (137)
66	CLINSEQ_SNP	ss491881812	May 04, 2012 (137)
67	ILLUMINA	ss533864163	Sep 08, 2015 (146)
68	ILLUMINA	ss537597602	Sep 08, 2015 (146)
69	TISHKOFF	ss559080874	Apr 25, 2013 (138)
70	SSMP	ss652991046	Apr 25, 2013 (138)
71	ILLUMINA	ss780679471	Aug 21, 2014 (142)
72	ILLUMINA	ss783317125	Sep 08, 2015 (146)
73	ILLUMINA	ss784269119	Aug 21, 2014 (142)
74	ILLUMINA	ss825626797	Apr 01, 2015 (144)
75	ILLUMINA	ss832578664	Sep 08, 2015 (146)
76	ILLUMINA	ss833178242	Jul 13, 2019 (153)
77	ILLUMINA	ss836176089	Aug 21, 2014 (142)
78	JMKIDD_LAB	ss974459096	Aug 21, 2014 (142)
79	EVA-GONL	ss982704106	Aug 21, 2014 (142)
80	JMKIDD_LAB	ss1067475841	Aug 21, 2014 (142)
81	JMKIDD_LAB	ss1073468911	Aug 21, 2014 (142)
82	1000GENOMES	ss1319397975	Aug 21, 2014 (142)
83	HAMMER_LAB	ss1397445324	Sep 08, 2015 (146)
84	DDI	ss1430675465	Apr 01, 2015 (144)
85	EVA_GENOME_DK	ss1581579689	Apr 01, 2015 (144)
86	EVA_FINRISK	ss1584044127	Apr 01, 2015 (144)
87	EVA_DECODE	ss1592254896	Apr 01, 2015 (144)
88	EVA_UK10K_ALSPAC	ss1615185551	Apr 01, 2015 (144)
89	EVA_UK10K_TWINSUK	ss1658179584	Apr 01, 2015 (144)
90	EVA_EXAC	ss1688183994	Apr 01, 2015 (144)
91	EVA_MGP	ss1711114696	Apr 01, 2015 (144)
92	EVA_SVP	ss1712845225	Apr 01, 2015 (144)
93	ILLUMINA	ss1752621088	Sep 08, 2015 (146)
94	HAMMER_LAB	ss1804332135	Sep 08, 2015 (146)
95	WEILL_CORNELL_DGM	ss1925956963	Feb 12, 2016 (147)
96	GENOMED	ss1970340133	Jul 19, 2016 (147)
97	JJLAB	ss2023601072	Sep 14, 2016 (149)
98	USC_VALOUEV	ss2151765799	Nov 08, 2017 (151)
99	HUMAN_LONGEVITY	ss2282660176	Dec 20, 2016 (150)
100	SYSTEMSBIOZJU	ss2626288470	Nov 08, 2017 (151)
101	ILLUMINA	ss2634415544	Nov 08, 2017 (151)
102	GRF	ss2707356838	Nov 08, 2017 (151)
103	GNOMAD	ss2735579868	Nov 08, 2017 (151)
104	GNOMAD	ss2747559802	Nov 08, 2017 (151)
105	GNOMAD	ss2836981621	Nov 08, 2017 (151)
106	AFFY	ss2985987049	Nov 08, 2017 (151)
107	SWEGEN	ss2998697879	Nov 08, 2017 (151)
108	EVA_SAMSUNG_MC	ss3023061802	Nov 08, 2017 (151)
109	BIOINF_KMB_FNS_UNIBA	ss3025587164	Nov 08, 2017 (151)
110	CSHL	ss3346891423	Nov 08, 2017 (151)
111	ILLUMINA	ss3629470149	Oct 12, 2018 (152)
112	ILLUMINA	ss3629470150	Oct 12, 2018 (152)
113	ILLUMINA	ss3632335039	Oct 12, 2018 (152)
114	ILLUMINA	ss3633410653	Oct 12, 2018 (152)
115	ILLUMINA	ss3634132831	Oct 12, 2018 (152)
116	ILLUMINA	ss3635049703	Oct 12, 2018 (152)
117	ILLUMINA	ss3635814057	Oct 12, 2018 (152)
118	ILLUMINA	ss3636765730	Oct 12, 2018 (152)
119	ILLUMINA	ss3637566788	Oct 12, 2018 (152)
120	ILLUMINA	ss3638613663	Oct 12, 2018 (152)
121	ILLUMINA	ss3639310078	Oct 12, 2018 (152)
122	ILLUMINA	ss3639680227	Oct 12, 2018 (152)
123	ILLUMINA	ss3640756999	Oct 12, 2018 (152)
124	ILLUMINA	ss3643554900	Oct 12, 2018 (152)
125	OMUKHERJEE_ADBS	ss3646331646	Oct 12, 2018 (152)
126	URBANLAB	ss3648294765	Oct 12, 2018 (152)
127	EGCUT_WGS	ss3666630264	Jul 13, 2019 (153)
128	EVA_DECODE	ss3716807184	Jul 13, 2019 (153)
129	ACPOP	ss3733304985	Jul 13, 2019 (153)
130	ILLUMINA	ss3744546869	Jul 13, 2019 (153)
131	ILLUMINA	ss3745349789	Jul 13, 2019 (153)
132	EVA	ss3764752091	Jul 13, 2019 (153)
133	ILLUMINA	ss3772843554	Jul 13, 2019 (153)
134	PACBIO	ss3785405119	Jul 13, 2019 (153)
135	PACBIO	ss3790766220	Jul 13, 2019 (153)
136	PACBIO	ss3795643567	Jul 13, 2019 (153)
137	KHV_HUMAN_GENOMES	ss3807913336	Jul 13, 2019 (153)
138	EVA	ss3824161089	Apr 26, 2020 (154)
139	EVA	ss3825523050	Apr 26, 2020 (154)
140	EVA	ss3825539114	Apr 26, 2020 (154)
141	EVA	ss3825691410	Apr 26, 2020 (154)
142	EVA	ss3829794531	Apr 26, 2020 (154)
143	EVA	ss3838373814	Apr 26, 2020 (154)
144	EVA	ss3843814788	Apr 26, 2020 (154)
145	HGDP	ss3847827591	Apr 26, 2020 (154)
146	SGDP_PRJ	ss3864144443	Apr 26, 2020 (154)
147	KRGDB	ss3910911922	Apr 26, 2020 (154)
148	KOGIC	ss3958715986	Apr 26, 2020 (154)
149	FSA-LAB	ss3984331271	Apr 26, 2021 (155)
150	FSA-LAB	ss3984331272	Apr 26, 2021 (155)
151	EVA	ss3985207571	Apr 26, 2021 (155)
152	EVA	ss3986033699	Apr 26, 2021 (155)
153	EVA	ss3986338564	Apr 26, 2021 (155)
154	TOPMED	ss4697177889	Apr 26, 2021 (155)
155	TOMMO_GENOMICS	ss5176639894	Apr 26, 2021 (155)
156	EVA	ss5237020434	Apr 26, 2021 (155)
157	EVA	ss5237189528	Apr 26, 2021 (155)
158	EVA	ss5237645306	Oct 17, 2022 (156)
159	1000G_HIGH_COVERAGE	ss5267785006	Oct 17, 2022 (156)
160	TRAN_CS_UWATERLOO	ss5314415228	Oct 17, 2022 (156)
161	EVA	ss5315131930	Oct 17, 2022 (156)
162	EVA	ss5364488995	Oct 17, 2022 (156)
163	HUGCELL_USP	ss5465543858	Oct 17, 2022 (156)
164	EVA	ss5508389197	Oct 17, 2022 (156)
165	1000G_HIGH_COVERAGE	ss5553384046	Oct 17, 2022 (156)
166	EVA	ss5623934872	Oct 17, 2022 (156)
167	EVA	ss5624155229	Oct 17, 2022 (156)
168	SANFORD_IMAGENETICS	ss5639989093	Oct 17, 2022 (156)
169	TOMMO_GENOMICS	ss5714441637	Oct 17, 2022 (156)
170	EVA	ss5799680030	Oct 17, 2022 (156)
171	EVA	ss5800055129	Oct 17, 2022 (156)
172	EVA	ss5800127737	Oct 17, 2022 (156)
173	YY_MCH	ss5807249909	Oct 17, 2022 (156)
174	EVA	ss5841947902	Oct 17, 2022 (156)
175	EVA	ss5848647290	Oct 17, 2022 (156)
176	EVA	ss5855252742	Oct 17, 2022 (156)
177	EVA	ss5883089785	Oct 17, 2022 (156)
178	EVA	ss5936529739	Oct 17, 2022 (156)
179	EVA	ss5968495757	Oct 17, 2022 (156)
180	EVA	ss5981233570	Oct 17, 2022 (156)
181	1000Genomes	NC_000006.11 - 25849620	Oct 12, 2018 (152)
182	1000Genomes_30x	NC_000006.12 - 25849392	Oct 17, 2022 (156)
183	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 25849620	Oct 12, 2018 (152)
184	Genome-wide autozygosity in Daghestan	NC_000006.10 - 25957599	Apr 26, 2020 (154)
185	Genetic variation in the Estonian population	NC_000006.11 - 25849620	Oct 12, 2018 (152)
186	ExAC	NC_000006.11 - 25849620	Oct 12, 2018 (152)
187	FINRISK	NC_000006.11 - 25849620	Apr 26, 2020 (154)
188	The Danish reference pan genome	NC_000006.11 - 25849620	Apr 26, 2020 (154)
189	gnomAD - Genomes Submission ignored due to conflicting rows: Row 220131282 (NC_000006.12:25849391:A:G 91263/139920) Row 220131283 (NC_000006.12:25849391:A:T 1/139978)	-	Apr 26, 2021 (155)
190	gnomAD - Genomes Submission ignored due to conflicting rows: Row 220131282 (NC_000006.12:25849391:A:G 91263/139920) Row 220131283 (NC_000006.12:25849391:A:T 1/139978)	-	Apr 26, 2021 (155)
191	gnomAD - Exomes	NC_000006.11 - 25849620	Jul 13, 2019 (153)
192	GO Exome Sequencing Project	NC_000006.11 - 25849620	Oct 12, 2018 (152)
193	Genome of the Netherlands Release 5	NC_000006.11 - 25849620	Apr 26, 2020 (154)
194	HGDP-CEPH-db Supplement 1	NC_000006.10 - 25957599	Apr 26, 2020 (154)
195	HapMap	NC_000006.12 - 25849392	Apr 26, 2020 (154)
196	KOREAN population from KRGDB	NC_000006.11 - 25849620	Apr 26, 2020 (154)
197	Korean Genome Project	NC_000006.12 - 25849392	Apr 26, 2020 (154)
198	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 25849620	Apr 26, 2020 (154)
199	Northern Sweden	NC_000006.11 - 25849620	Jul 13, 2019 (153)
200	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 25849620	Apr 26, 2021 (155)
201	Qatari	NC_000006.11 - 25849620	Apr 26, 2020 (154)
202	SGDP_PRJ	NC_000006.11 - 25849620	Apr 26, 2020 (154)
203	Siberian	NC_000006.11 - 25849620	Apr 26, 2020 (154)
204	8.3KJPN	NC_000006.11 - 25849620	Apr 26, 2021 (155)
205	14KJPN	NC_000006.12 - 25849392	Oct 17, 2022 (156)
206	TopMed	NC_000006.12 - 25849392	Apr 26, 2021 (155)
207	UK 10K study - Twins	NC_000006.11 - 25849620	Oct 12, 2018 (152)
208	A Vietnamese Genetic Variation Database	NC_000006.11 - 25849620	Jul 13, 2019 (153)
209	ALFA	NC_000006.12 - 25849392	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)
rs1747553	Jan 18, 2001 (92)
rs3736878	Oct 08, 2002 (108)
rs17270953	Oct 08, 2004 (123)
rs17851585	Mar 11, 2006 (126)
rs57863386	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss79964589, ss85442178, ss3639310078, ss3639680227	NC_000006.9:25957598:A:G	NC_000006.12:25849391:A:G	(self)
419983, 505483, ss93427203, ss109846530, ss114057551, ss116362883, ss162138746, ss163274118, ss166329024, ss201555562, ss207688997, ss217320156, ss217395784, ss217397300, ss217405267, ss217415941, ss217416440, ss217419826, ss254130549, ss278696590, ss285361177, ss293812702, ss481897385, ss491881812, ss825626797, ss1397445324, ss1592254896, ss1712845225, ss3643554900, ss3847827591	NC_000006.10:25957598:A:G	NC_000006.12:25849391:A:G	(self)
31158665, 17364463, 12368512, 8205151, 40588, 7744628, 4717874, 619131, 7706030, 18089316, 230456, 6589850, 433498, 7998893, 16161423, 4282153, 34609201, 17364463, 3844902, ss222271766, ss233370054, ss240444007, ss342202820, ss481930500, ss482888030, ss485742698, ss490920831, ss533864163, ss537597602, ss559080874, ss652991046, ss780679471, ss783317125, ss784269119, ss832578664, ss833178242, ss836176089, ss974459096, ss982704106, ss1067475841, ss1073468911, ss1319397975, ss1430675465, ss1581579689, ss1584044127, ss1615185551, ss1658179584, ss1688183994, ss1711114696, ss1752621088, ss1804332135, ss1925956963, ss1970340133, ss2023601072, ss2151765799, ss2626288470, ss2634415544, ss2707356838, ss2735579868, ss2747559802, ss2836981621, ss2985987049, ss2998697879, ss3023061802, ss3346891423, ss3629470149, ss3629470150, ss3632335039, ss3633410653, ss3634132831, ss3635049703, ss3635814057, ss3636765730, ss3637566788, ss3638613663, ss3640756999, ss3646331646, ss3666630264, ss3733304985, ss3744546869, ss3745349789, ss3764752091, ss3772843554, ss3785405119, ss3790766220, ss3795643567, ss3824161089, ss3825523050, ss3825539114, ss3825691410, ss3829794531, ss3838373814, ss3864144443, ss3910911922, ss3984331271, ss3984331272, ss3985207571, ss3986033699, ss3986338564, ss5176639894, ss5315131930, ss5364488995, ss5508389197, ss5623934872, ss5624155229, ss5639989093, ss5799680030, ss5800055129, ss5800127737, ss5841947902, ss5848647290, ss5936529739, ss5968495757, ss5981233570	NC_000006.11:25849619:A:G	NC_000006.12:25849391:A:G	(self)
40909981, 3087353, 15093987, 48278741, 534555447, 7113509079, ss2282660176, ss3025587164, ss3648294765, ss3716807184, ss3807913336, ss3843814788, ss3958715986, ss4697177889, ss5237020434, ss5237189528, ss5237645306, ss5267785006, ss5314415228, ss5465543858, ss5553384046, ss5714441637, ss5807249909, ss5855252742, ss5883089785	NC_000006.12:25849391:A:G	NC_000006.12:25849391:A:G	(self)
ss10347511, ss11840495, ss13083570	NT_007592.13:16707870:A:G	NC_000006.12:25849391:A:G	(self)
ss76888498	NT_007592.14:16707870:A:G	NC_000006.12:25849391:A:G	(self)
ss1383358, ss1581355, ss2594607, ss4922877, ss24429058, ss28505887, ss44749385, ss48417375, ss65736046, ss65842502, ss66568038, ss67916943, ss68042315, ss68388947, ss71606979, ss75748274, ss79296279, ss83623556, ss98258473, ss98482125, ss105987820, ss122991286, ss143810895, ss154493502, ss156665833, ss159667495, ss159711385, ss160986513, ss172463585, ss174840623	NT_007592.15:25789619:A:G	NC_000006.12:25849391:A:G	(self)
7113509079	NC_000006.12:25849391:A:T	NC_000006.12:25849391:A:T	(self)

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

4 citations for rs942379

PMID	Title	Author	Year	Journal
19503597	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	Kolz M et al.	2009	PLoS genetics
20162742	Predictive value of 8 genetic loci for serum uric acid concentration.	Gunjaca G et al.	2010	Croatian medical journal
20162743	Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.	Polasek O et al.	2010	Croatian medical journal
34919578	In vivo identification and validation of novel potential predictors for human cardiovascular diseases.	Hammouda OT et al.	2021	PloS one

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

rs942379