Name: rs12356193
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.

rs12356193

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:59653595 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.156209 (52536/336318, ALFA)
G=0.121070 (32046/264690, TOPMED)
G=0.121481 (17021/140112, GnomAD) (+ 22 more)
G=0.08122 (6392/78700, PAGE_STUDY)
G=0.00004 (1/28258, 14KJPN)
G=0.0885 (567/6404, 1000G_30x)
G=0.0865 (433/5008, 1000G)
G=0.1067 (478/4480, Estonian)
G=0.1679 (647/3854, ALSPAC)
G=0.1621 (601/3708, TWINSUK)
G=0.0007 (2/2922, KOREAN)
G=0.0831 (173/2082, HGDP_Stanford)
G=0.0884 (160/1810, HapMap)
G=0.1444 (164/1136, Daghestan)
G=0.168 (168/998, GoNL)
G=0.005 (4/792, PRJEB37584)
G=0.128 (77/600, NorthernSweden)
G=0.120 (64/534, MGP)
G=0.153 (33/216, Qatari)
G=0.005 (1/212, Vietnamese)
A=0.41 (34/82, SGDP_PRJ)
G=0.28 (11/40, GENOME_DK)
G=0.38 (6/16, Ancient Sardinia)
A=0.5 (5/10, Siberian)
G=0.5 (5/10, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC16A9 : Synonymous Variant
Publications: 14 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	341448	A=0.844108	G=0.155892	0.713637	0.025421	0.260942	7
European	Sub	298336	A=0.835994	G=0.164006	0.698984	0.026996	0.27402	0
African	Sub	12148	A=0.91916	G=0.08084	0.847876	0.009549	0.142575	6
African Others	Sub	456	A=0.943	G=0.057	0.894737	0.008772	0.096491	2
African American	Sub	11692	A=0.91823	G=0.08177	0.846049	0.009579	0.144372	5
Asian	Sub	3938	A=0.9970	G=0.0030	0.993906	0.0	0.006094	0
East Asian	Sub	3192	A=0.9997	G=0.0003	0.999373	0.0	0.000627	0
Other Asian	Sub	746	A=0.985	G=0.015	0.970509	0.0	0.029491	0
Latin American 1	Sub	1134	A=0.8466	G=0.1534	0.728395	0.035273	0.236332	3
Latin American 2	Sub	7224	A=0.9145	G=0.0855	0.838594	0.00969	0.151717	2
South Asian	Sub	5226	A=0.8710	G=0.1290	0.764638	0.022579	0.212782	4
Other	Sub	13442	A=0.86312	G=0.13688	0.74721	0.020979	0.231811	2

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	336318	A=0.843791	G=0.156209
Allele Frequency Aggregator	European	Sub	295166	A=0.835991	G=0.164009
Allele Frequency Aggregator	Other	Sub	12624	A=0.85955	G=0.14045
Allele Frequency Aggregator	African	Sub	11006	A=0.92050	G=0.07950
Allele Frequency Aggregator	Latin American 2	Sub	7224	A=0.9145	G=0.0855
Allele Frequency Aggregator	South Asian	Sub	5226	A=0.8710	G=0.1290
Allele Frequency Aggregator	Asian	Sub	3938	A=0.9970	G=0.0030
Allele Frequency Aggregator	Latin American 1	Sub	1134	A=0.8466	G=0.1534
TopMed	Global	Study-wide	264690	A=0.878930	G=0.121070
gnomAD - Genomes	Global	Study-wide	140112	A=0.878519	G=0.121481
gnomAD - Genomes	European	Sub	75890	A=0.84861	G=0.15139
gnomAD - Genomes	African	Sub	41974	A=0.92591	G=0.07409
gnomAD - Genomes	American	Sub	13644	A=0.88464	G=0.11536
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.8275	G=0.1725
gnomAD - Genomes	East Asian	Sub	3128	A=0.9990	G=0.0010
gnomAD - Genomes	Other	Sub	2154	A=0.8737	G=0.1263
The PAGE Study	Global	Study-wide	78700	A=0.91878	G=0.08122
The PAGE Study	AfricanAmerican	Sub	32514	A=0.92219	G=0.07781
The PAGE Study	Mexican	Sub	10810	A=0.91240	G=0.08760
The PAGE Study	Asian	Sub	8318	A=0.9987	G=0.0013
The PAGE Study	PuertoRican	Sub	7918	A=0.8809	G=0.1191
The PAGE Study	NativeHawaiian	Sub	4534	A=0.9574	G=0.0426
The PAGE Study	Cuban	Sub	4230	A=0.8548	G=0.1452
The PAGE Study	Dominican	Sub	3828	A=0.8710	G=0.1290
The PAGE Study	CentralAmerican	Sub	2450	A=0.9286	G=0.0714
The PAGE Study	SouthAmerican	Sub	1982	A=0.9067	G=0.0933
The PAGE Study	NativeAmerican	Sub	1260	A=0.8698	G=0.1302
The PAGE Study	SouthAsian	Sub	856	A=0.841	G=0.159
14KJPN	JAPANESE	Study-wide	28258	A=0.99996	G=0.00004
1000Genomes_30x	Global	Study-wide	6404	A=0.9115	G=0.0885
1000Genomes_30x	African	Sub	1786	A=0.9362	G=0.0638
1000Genomes_30x	Europe	Sub	1266	A=0.8270	G=0.1730
1000Genomes_30x	South Asian	Sub	1202	A=0.8860	G=0.1140
1000Genomes_30x	East Asian	Sub	1170	A=0.9991	G=0.0009
1000Genomes_30x	American	Sub	980	A=0.902	G=0.098
1000Genomes	Global	Study-wide	5008	A=0.9135	G=0.0865
1000Genomes	African	Sub	1322	A=0.9372	G=0.0628
1000Genomes	East Asian	Sub	1008	A=0.9990	G=0.0010
1000Genomes	Europe	Sub	1006	A=0.8260	G=0.1740
1000Genomes	South Asian	Sub	978	A=0.885	G=0.115
1000Genomes	American	Sub	694	A=0.911	G=0.089
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.8933	G=0.1067
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.8321	G=0.1679
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.8379	G=0.1621
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.9993	G=0.0007
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	A=0.9169	G=0.0831
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.996	G=0.004
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.867	G=0.133
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	A=0.888	G=0.112
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.806	G=0.194
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.959	G=0.041
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.986	G=0.014
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.97	G=0.03
HapMap	Global	Study-wide	1810	A=0.9116	G=0.0884
HapMap	American	Sub	770	A=0.896	G=0.104
HapMap	African	Sub	692	A=0.939	G=0.061
HapMap	Europe	Sub	176	A=0.790	G=0.210
HapMap	Asian	Sub	172	A=0.994	G=0.006
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.8556	G=0.1444
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.846	G=0.154
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.812	G=0.188
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.934	G=0.066
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.843	G=0.157
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.90	G=0.10
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.86	G=0.14
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.832	G=0.168
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.995	G=0.005
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.995	G=0.005
Northern Sweden	ACPOP	Study-wide	600	A=0.872	G=0.128
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.880	G=0.120
Qatari	Global	Study-wide	216	A=0.847	G=0.153
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.995	G=0.005
SGDP_PRJ	Global	Study-wide	82	A=0.41	G=0.59
The Danish reference pan genome	Danish	Study-wide	40	A=0.72	G=0.28
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	16	A=0.62	G=0.38
Siberian	Global	Study-wide	10	A=0.5	G=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 10	NC_000010.11:g.59653595A>G
GRCh37.p13 chr 10	NC_000010.10:g.61413353A>G

Gene: SLC16A9, solute carrier family 16 member 9 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC16A9 transcript variant 3	NM_001323977.1:c.1090+80T… NM_001323977.1:c.1090+80T>C	N/A	Intron Variant
SLC16A9 transcript variant 4	NM_001323978.2:c.1090+80T… NM_001323978.2:c.1090+80T>C	N/A	Intron Variant
SLC16A9 transcript variant 5	NM_001323979.2:c.1090+80T… NM_001323979.2:c.1090+80T>C	N/A	Intron Variant
SLC16A9 transcript variant 6	NM_001323980.2:c.1090+80T… NM_001323980.2:c.1090+80T>C	N/A	Intron Variant
SLC16A9 transcript variant 2	NM_001323981.2:c.1351+80T… NM_001323981.2:c.1351+80T>C	N/A	Intron Variant
SLC16A9 transcript variant 1	NM_194298.3:c.1351+80T>C	N/A	Intron Variant
SLC16A9 transcript variant X6	XM_017015884.3:c.1351+80T… XM_017015884.3:c.1351+80T>C	N/A	Intron Variant
SLC16A9 transcript variant X8	XM_024447878.2:c.1351+80T… XM_024447878.2:c.1351+80T>C	N/A	Intron Variant
SLC16A9 transcript variant X7	XM_047424757.1:c.1351+80T… XM_047424757.1:c.1351+80T>C	N/A	Intron Variant
SLC16A9 transcript variant X1	XM_017015883.2:c.1431T>C	N [AAT] > N [AAC]	Coding Sequence Variant
monocarboxylate transporter 9 isoform X1	XP_016871372.1:p.Asn477=	N (Asn) > N (Asn)	Synonymous Variant
SLC16A9 transcript variant X2	XM_047424753.1:c.1431T>C	N [AAT] > N [AAC]	Coding Sequence Variant
monocarboxylate transporter 9 isoform X1	XP_047280709.1:p.Asn477=	N (Asn) > N (Asn)	Synonymous Variant
SLC16A9 transcript variant X3	XM_047424754.1:c.1431T>C	N [AAT] > N [AAC]	Coding Sequence Variant
monocarboxylate transporter 9 isoform X1	XP_047280710.1:p.Asn477=	N (Asn) > N (Asn)	Synonymous Variant
SLC16A9 transcript variant X4	XM_047424755.1:c.1431T>C	N [AAT] > N [AAC]	Coding Sequence Variant
monocarboxylate transporter 9 isoform X1	XP_047280711.1:p.Asn477=	N (Asn) > N (Asn)	Synonymous Variant
SLC16A9 transcript variant X5	XM_047424756.1:c.1431T>C	N [AAT] > N [AAC]	Coding Sequence Variant
monocarboxylate transporter 9 isoform X1	XP_047280712.1:p.Asn477=	N (Asn) > N (Asn)	Synonymous 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
GRCh38.p14 chr 10	NC_000010.11:g.59653595=	NC_000010.11:g.59653595A>G
GRCh37.p13 chr 10	NC_000010.10:g.61413353=	NC_000010.10:g.61413353A>G
SLC16A9 transcript variant X1	XM_017015883.2:c.1431=	XM_017015883.2:c.1431T>C
SLC16A9 transcript variant X1	XM_017015883.1:c.1431=	XM_017015883.1:c.1431T>C
SLC16A9 transcript variant X2	XM_047424753.1:c.1431=	XM_047424753.1:c.1431T>C
SLC16A9 transcript variant X5	XM_047424756.1:c.1431=	XM_047424756.1:c.1431T>C
SLC16A9 transcript variant X3	XM_047424754.1:c.1431=	XM_047424754.1:c.1431T>C
SLC16A9 transcript variant X4	XM_047424755.1:c.1431=	XM_047424755.1:c.1431T>C
monocarboxylate transporter 9 isoform X1	XP_016871372.1:p.Asn477=	XP_016871372.1:p.Asn477=
monocarboxylate transporter 9 isoform X1	XP_047280709.1:p.Asn477=	XP_047280709.1:p.Asn477=
monocarboxylate transporter 9 isoform X1	XP_047280712.1:p.Asn477=	XP_047280712.1:p.Asn477=
monocarboxylate transporter 9 isoform X1	XP_047280710.1:p.Asn477=	XP_047280710.1:p.Asn477=
monocarboxylate transporter 9 isoform X1	XP_047280711.1:p.Asn477=	XP_047280711.1:p.Asn477=
SLC16A9 transcript variant 3	NM_001323977.1:c.1090+80=	NM_001323977.1:c.1090+80T>C
SLC16A9 transcript variant 4	NM_001323978.2:c.1090+80=	NM_001323978.2:c.1090+80T>C
SLC16A9 transcript variant 5	NM_001323979.2:c.1090+80=	NM_001323979.2:c.1090+80T>C
SLC16A9 transcript variant 6	NM_001323980.2:c.1090+80=	NM_001323980.2:c.1090+80T>C
SLC16A9 transcript variant 2	NM_001323981.2:c.1351+80=	NM_001323981.2:c.1351+80T>C
SLC16A9 transcript variant 1	NM_194298.2:c.1351+80=	NM_194298.2:c.1351+80T>C
SLC16A9 transcript variant 1	NM_194298.3:c.1351+80=	NM_194298.3:c.1351+80T>C
SLC16A9 transcript variant X6	XM_017015884.3:c.1351+80=	XM_017015884.3:c.1351+80T>C
SLC16A9 transcript variant X8	XM_024447878.2:c.1351+80=	XM_024447878.2:c.1351+80T>C
SLC16A9 transcript variant X7	XM_047424757.1:c.1351+80=	XM_047424757.1:c.1351+80T>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#.

129 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18873908	Feb 28, 2004 (120)
2	PERLEGEN	ss24507086	Sep 20, 2004 (123)
3	ILLUMINA	ss67000480	Dec 01, 2006 (127)
4	ILLUMINA	ss67318680	Dec 01, 2006 (127)
5	ILLUMINA	ss68127168	Dec 12, 2006 (127)
6	PERLEGEN	ss69080482	May 18, 2007 (127)
7	ILLUMINA	ss70564927	May 25, 2008 (130)
8	ILLUMINA	ss71104700	May 18, 2007 (127)
9	ILLUMINA	ss75538904	Dec 06, 2007 (129)
10	KRIBB_YJKIM	ss85211529	Dec 15, 2007 (130)
11	HUMANGENOME_JCVI	ss97654207	Feb 05, 2009 (130)
12	1000GENOMES	ss109483792	Jan 24, 2009 (130)
13	ILLUMINA	ss153179864	Dec 01, 2009 (131)
14	ILLUMINA	ss159213689	Dec 01, 2009 (131)
15	ILLUMINA	ss160052969	Dec 01, 2009 (131)
16	ILLUMINA	ss172027980	Jul 04, 2010 (132)
17	1000GENOMES	ss224753924	Jul 14, 2010 (132)
18	1000GENOMES	ss235195771	Jul 15, 2010 (132)
19	BL	ss254354117	May 09, 2011 (134)
20	GMI	ss286199473	Apr 25, 2013 (138)
21	PJP	ss290848848	May 09, 2011 (134)
22	ILLUMINA	ss410899098	Sep 17, 2011 (135)
23	ILLUMINA	ss479722637	May 04, 2012 (137)
24	ILLUMINA	ss479728459	May 04, 2012 (137)
25	ILLUMINA	ss480277377	Sep 08, 2015 (146)
26	ILLUMINA	ss484659694	May 04, 2012 (137)
27	EXOME_CHIP	ss491435607	May 04, 2012 (137)
28	ILLUMINA	ss536775148	Sep 08, 2015 (146)
29	TISHKOFF	ss561987180	Apr 25, 2013 (138)
30	SSMP	ss656805143	Apr 25, 2013 (138)
31	ILLUMINA	ss778779746	Aug 21, 2014 (142)
32	ILLUMINA	ss782776705	Aug 21, 2014 (142)
33	ILLUMINA	ss783742736	Aug 21, 2014 (142)
34	ILLUMINA	ss832029233	Apr 01, 2015 (144)
35	ILLUMINA	ss832726093	Aug 21, 2014 (142)
36	ILLUMINA	ss833316923	Aug 21, 2014 (142)
37	ILLUMINA	ss834239677	Aug 21, 2014 (142)
38	EVA-GONL	ss987541229	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1077025628	Aug 21, 2014 (142)
40	1000GENOMES	ss1337636183	Aug 21, 2014 (142)
41	HAMMER_LAB	ss1397582856	Sep 08, 2015 (146)
42	DDI	ss1426336746	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1575148016	Apr 01, 2015 (144)
44	EVA_DECODE	ss1597207129	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1624669774	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1667663807	Apr 01, 2015 (144)
47	EVA_MGP	ss1711258084	Apr 01, 2015 (144)
48	EVA_SVP	ss1713183162	Apr 01, 2015 (144)
49	ILLUMINA	ss1751974436	Sep 08, 2015 (146)
50	WEILL_CORNELL_DGM	ss1930904879	Feb 12, 2016 (147)
51	ILLUMINA	ss1946283339	Feb 12, 2016 (147)
52	ILLUMINA	ss1959266139	Feb 12, 2016 (147)
53	JJLAB	ss2026175402	Sep 14, 2016 (149)
54	ILLUMINA	ss2095011487	Dec 20, 2016 (150)
55	USC_VALOUEV	ss2154448367	Dec 20, 2016 (150)
56	HUMAN_LONGEVITY	ss2175152926	Dec 20, 2016 (150)
57	ILLUMINA	ss2632716806	Nov 08, 2017 (151)
58	ILLUMINA	ss2632716807	Nov 08, 2017 (151)
59	ILLUMINA	ss2632716808	Nov 08, 2017 (151)
60	ILLUMINA	ss2710711065	Nov 08, 2017 (151)
61	GNOMAD	ss2889343285	Nov 08, 2017 (151)
62	AFFY	ss2984913111	Nov 08, 2017 (151)
63	AFFY	ss2985558151	Nov 08, 2017 (151)
64	SWEGEN	ss3006559779	Nov 08, 2017 (151)
65	ILLUMINA	ss3021243846	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3026878546	Nov 08, 2017 (151)
67	CSHL	ss3349146069	Nov 08, 2017 (151)
68	ILLUMINA	ss3625580185	Oct 12, 2018 (152)
69	ILLUMINA	ss3626456186	Oct 12, 2018 (152)
70	ILLUMINA	ss3630742286	Oct 12, 2018 (152)
71	ILLUMINA	ss3632951067	Oct 12, 2018 (152)
72	ILLUMINA	ss3633648278	Oct 12, 2018 (152)
73	ILLUMINA	ss3634405619	Oct 12, 2018 (152)
74	ILLUMINA	ss3635340752	Oct 12, 2018 (152)
75	ILLUMINA	ss3636088038	Oct 12, 2018 (152)
76	ILLUMINA	ss3637091429	Oct 12, 2018 (152)
77	ILLUMINA	ss3637852447	Oct 12, 2018 (152)
78	ILLUMINA	ss3638942241	Oct 12, 2018 (152)
79	ILLUMINA	ss3639782642	Oct 12, 2018 (152)
80	ILLUMINA	ss3640112961	Oct 12, 2018 (152)
81	ILLUMINA	ss3642855795	Oct 12, 2018 (152)
82	ILLUMINA	ss3643835330	Oct 12, 2018 (152)
83	ILLUMINA	ss3644536022	Oct 12, 2018 (152)
84	URBANLAB	ss3649383708	Oct 12, 2018 (152)
85	ILLUMINA	ss3651597544	Oct 12, 2018 (152)
86	ILLUMINA	ss3653683666	Oct 12, 2018 (152)
87	EGCUT_WGS	ss3673971885	Jul 13, 2019 (153)
88	EVA_DECODE	ss3689976576	Jul 13, 2019 (153)
89	ILLUMINA	ss3725160565	Jul 13, 2019 (153)
90	ACPOP	ss3737365531	Jul 13, 2019 (153)
91	ILLUMINA	ss3744070907	Jul 13, 2019 (153)
92	ILLUMINA	ss3744367082	Jul 13, 2019 (153)
93	ILLUMINA	ss3744706490	Jul 13, 2019 (153)
94	EVA	ss3748162042	Jul 13, 2019 (153)
95	PAGE_CC	ss3771560358	Jul 13, 2019 (153)
96	ILLUMINA	ss3772207059	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3813538026	Jul 13, 2019 (153)
98	EVA	ss3832151312	Apr 26, 2020 (154)
99	EVA	ss3839614959	Apr 26, 2020 (154)
100	EVA	ss3845087127	Apr 26, 2020 (154)
101	HGDP	ss3847387411	Apr 26, 2020 (154)
102	SGDP_PRJ	ss3874313678	Apr 26, 2020 (154)
103	KRGDB	ss3922382016	Apr 26, 2020 (154)
104	FSA-LAB	ss3983978225	Apr 26, 2021 (155)
105	EVA	ss3984634929	Apr 26, 2021 (155)
106	EVA	ss3985477585	Apr 26, 2021 (155)
107	EVA	ss3986484888	Apr 26, 2021 (155)
108	EVA	ss4017487903	Apr 26, 2021 (155)
109	TOPMED	ss4854135976	Apr 26, 2021 (155)
110	EVA	ss5237477290	Apr 26, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5284220939	Oct 16, 2022 (156)
112	EVA	ss5315476155	Oct 16, 2022 (156)
113	EVA	ss5393774046	Oct 16, 2022 (156)
114	HUGCELL_USP	ss5479780412	Oct 16, 2022 (156)
115	EVA	ss5510036391	Oct 16, 2022 (156)
116	1000G_HIGH_COVERAGE	ss5578258498	Oct 16, 2022 (156)
117	EVA	ss5624009249	Oct 16, 2022 (156)
118	SANFORD_IMAGENETICS	ss5624248720	Oct 16, 2022 (156)
119	SANFORD_IMAGENETICS	ss5649386948	Oct 16, 2022 (156)
120	TOMMO_GENOMICS	ss5743751359	Oct 16, 2022 (156)
121	EVA	ss5799813775	Oct 16, 2022 (156)
122	EVA	ss5800159524	Oct 16, 2022 (156)
123	EVA	ss5824464284	Oct 16, 2022 (156)
124	EVA	ss5847373520	Oct 16, 2022 (156)
125	EVA	ss5847596936	Oct 16, 2022 (156)
126	EVA	ss5848298921	Oct 16, 2022 (156)
127	EVA	ss5879099725	Oct 16, 2022 (156)
128	EVA	ss5940656403	Oct 16, 2022 (156)
129	EVA	ss5979327052	Oct 16, 2022 (156)
130	1000Genomes	NC_000010.10 - 61413353	Oct 12, 2018 (152)
131	1000Genomes_30x	NC_000010.11 - 59653595	Oct 16, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 61413353	Oct 12, 2018 (152)
133	Genome-wide autozygosity in Daghestan	NC_000010.9 - 61083359	Apr 26, 2020 (154)
134	Genetic variation in the Estonian population	NC_000010.10 - 61413353	Oct 12, 2018 (152)
135	The Danish reference pan genome	NC_000010.10 - 61413353	Apr 26, 2020 (154)
136	gnomAD - Genomes	NC_000010.11 - 59653595	Apr 26, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000010.10 - 61413353	Apr 26, 2020 (154)
138	HGDP-CEPH-db Supplement 1	NC_000010.9 - 61083359	Apr 26, 2020 (154)
139	HapMap	NC_000010.11 - 59653595	Apr 26, 2020 (154)
140	KOREAN population from KRGDB	NC_000010.10 - 61413353	Apr 26, 2020 (154)
141	Medical Genome Project healthy controls from Spanish population	NC_000010.10 - 61413353	Apr 26, 2020 (154)
142	Northern Sweden	NC_000010.10 - 61413353	Jul 13, 2019 (153)
143	The PAGE Study	NC_000010.11 - 59653595	Jul 13, 2019 (153)
144	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 61413353	Apr 26, 2021 (155)
145	CNV burdens in cranial meningiomas	NC_000010.10 - 61413353	Apr 26, 2021 (155)
146	Qatari	NC_000010.10 - 61413353	Apr 26, 2020 (154)
147	SGDP_PRJ	NC_000010.10 - 61413353	Apr 26, 2020 (154)
148	Siberian	NC_000010.10 - 61413353	Apr 26, 2020 (154)
149	14KJPN	NC_000010.11 - 59653595	Oct 16, 2022 (156)
150	TopMed	NC_000010.11 - 59653595	Apr 26, 2021 (155)
151	UK 10K study - Twins	NC_000010.10 - 61413353	Oct 12, 2018 (152)
152	A Vietnamese Genetic Variation Database	NC_000010.10 - 61413353	Jul 13, 2019 (153)
153	ALFA	NC_000010.11 - 59653595	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)
rs17196844	Oct 08, 2004 (123)
rs59697368	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638942241, ss3639782642, ss3643835330	NC_000010.8:61083358:A:G	NC_000010.11:59653594:A:G	(self)
54354, 65303, ss109483792, ss160052969, ss254354117, ss286199473, ss290848848, ss410899098, ss479722637, ss1397582856, ss1597207129, ss1713183162, ss3642855795, ss3847387411	NC_000010.9:61083358:A:G	NC_000010.11:59653594:A:G	(self)
50031209, 27767259, 19710133, 2177823, 12383799, 29559410, 373844, 10650396, 703512, 184388, 12946809, 26330658, 6964721, 27767259, 6166885, ss224753924, ss235195771, ss479728459, ss480277377, ss484659694, ss491435607, ss536775148, ss561987180, ss656805143, ss778779746, ss782776705, ss783742736, ss832029233, ss832726093, ss833316923, ss834239677, ss987541229, ss1077025628, ss1337636183, ss1426336746, ss1575148016, ss1624669774, ss1667663807, ss1711258084, ss1751974436, ss1930904879, ss1946283339, ss1959266139, ss2026175402, ss2095011487, ss2154448367, ss2632716806, ss2632716807, ss2632716808, ss2710711065, ss2889343285, ss2984913111, ss2985558151, ss3006559779, ss3021243846, ss3349146069, ss3625580185, ss3626456186, ss3630742286, ss3632951067, ss3633648278, ss3634405619, ss3635340752, ss3636088038, ss3637091429, ss3637852447, ss3640112961, ss3644536022, ss3651597544, ss3653683666, ss3673971885, ss3737365531, ss3744070907, ss3744367082, ss3744706490, ss3748162042, ss3772207059, ss3832151312, ss3839614959, ss3874313678, ss3922382016, ss3983978225, ss3984634929, ss3985477585, ss3986484888, ss4017487903, ss5237477290, ss5315476155, ss5393774046, ss5510036391, ss5624009249, ss5624248720, ss5649386948, ss5799813775, ss5800159524, ss5824464284, ss5847373520, ss5847596936, ss5848298921, ss5940656403, ss5979327052	NC_000010.10:61413352:A:G	NC_000010.11:59653594:A:G	(self)
65784433, 353647466, 413628, 781827, 77588463, 69681631, 11125369530, ss2175152926, ss3026878546, ss3649383708, ss3689976576, ss3725160565, ss3771560358, ss3813538026, ss3845087127, ss4854135976, ss5284220939, ss5479780412, ss5578258498, ss5743751359, ss5879099725	NC_000010.11:59653594:A:G	NC_000010.11:59653594:A:G	(self)
ss18873908	NT_008583.16:9964507:A:G	NC_000010.11:59653594:A:G	(self)
ss24507086, ss67000480, ss67318680, ss68127168, ss69080482, ss70564927, ss71104700, ss75538904, ss85211529, ss97654207, ss153179864, ss159213689, ss172027980	NT_030059.13:12217816:A:G	NC_000010.11:59653594:A:G	(self)

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

14 citations for rs12356193

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
19890391	Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.	Stark K et al.	2009	PloS one
21768215	Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.	Tin A et al.	2011	Human molecular genetics
23712608	Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.	González-Aramburu I et al.	2013	Movement disorders
24376456	Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.	Simino J et al.	2013	Frontiers in genetics
24513273	A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.	Yang B et al.	2014	BMC medical genomics
24637121	Serum uric acid and risk of dementia in Parkinson's disease.	González-Aramburu I et al.	2014	Parkinsonism & related disorders
24824278	HBsAg loss in patients treated with peginterferon alfa-2a and adefovir is associated with SLC16A9 gene variation and lower plasma carnitine levels.	Jansen L et al.	2014	Journal of hepatology
26290326	Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.	Zhou ZW et al.	2015	BMC medical genetics
26446360	Mendelian randomization studies of biomarkers and type 2 diabetes.	Abbasi A et al.	2015	Endocrine connections
26902266	Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.	Giri AK et al.	2016	Scientific reports
27048905	SHEsisPlus, a toolset for genetic studies on polyploid species.	Shen J et al.	2016	Scientific reports
27355821	Characterizing Blood Metabolomics Profiles Associated with Self-Reported Food Intakes in Female Twins.	Pallister T et al.	2016	PloS one
28679452	Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout.	Rasheed H et al.	2017	Arthritis research & therapy

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

rs12356193