Name: rs2056202
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.

rs2056202

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:171855970 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.247293 (65456/264690, TOPMED)
T=0.194686 (48865/250994, GnomAD_exome)
T=0.235595 (33005/140092, GnomAD) (+ 25 more)
T=0.190307 (23069/121220, ExAC)
T=0.15969 (12498/78264, ALFA)
T=0.08982 (2538/28256, 14KJPN)
T=0.09153 (1534/16760, 8.3KJPN)
T=0.22313 (2902/13006, GO-ESP)
T=0.2489 (1594/6404, 1000G_30x)
T=0.2420 (1212/5008, 1000G)
T=0.1600 (717/4480, Estonian)
T=0.1341 (517/3854, ALSPAC)
T=0.1348 (500/3708, TWINSUK)
T=0.1154 (338/2930, KOREAN)
T=0.2370 (494/2084, HGDP_Stanford)
T=0.2495 (472/1892, HapMap)
T=0.1179 (216/1832, Korea1K)
T=0.125 (125/998, GoNL)
T=0.088 (69/786, PRJEB37584)
T=0.173 (104/600, NorthernSweden)
T=0.125 (67/534, MGP)
T=0.177 (88/498, SGDP_PRJ)
T=0.181 (55/304, FINRISK)
T=0.181 (39/216, Qatari)
T=0.094 (20/212, Vietnamese)
T=0.13 (7/54, Siberian)
T=0.15 (6/40, GENOME_DK)
T=0.00 (0/24, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SLC25A12 : Intron Variant
Publications: 13 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	78264	T=0.15969	C=0.84031
European	Sub	62728	T=0.13873	C=0.86127
African	Sub	5134	T=0.3627	C=0.6373
African Others	Sub	178	T=0.393	C=0.607
African American	Sub	4956	T=0.3616	C=0.6384
Asian	Sub	246	T=0.146	C=0.854
East Asian	Sub	174	T=0.121	C=0.879
Other Asian	Sub	72	T=0.21	C=0.79
Latin American 1	Sub	254	T=0.228	C=0.772
Latin American 2	Sub	1232	T=0.3174	C=0.6826
South Asian	Sub	4952	T=0.1652	C=0.8348
Other	Sub	3718	T=0.1697	C=0.8303

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	T=0.247293	C=0.752707
gnomAD - Exomes	Global	Study-wide	250994	T=0.194686	C=0.805314
gnomAD - Exomes	European	Sub	135098	T=0.144014	C=0.855986
gnomAD - Exomes	Asian	Sub	48972	T=0.14459	C=0.85541
gnomAD - Exomes	American	Sub	34536	T=0.38800	C=0.61200
gnomAD - Exomes	African	Sub	16214	T=0.40348	C=0.59652
gnomAD - Exomes	Ashkenazi Jewish	Sub	10064	T=0.12808	C=0.87192
gnomAD - Exomes	Other	Sub	6110	T=0.1795	C=0.8205
gnomAD - Genomes	Global	Study-wide	140092	T=0.235595	C=0.764405
gnomAD - Genomes	European	Sub	75914	T=0.14462	C=0.85538
gnomAD - Genomes	African	Sub	41938	T=0.39041	C=0.60959
gnomAD - Genomes	American	Sub	13632	T=0.32167	C=0.67833
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.1312	C=0.8688
gnomAD - Genomes	East Asian	Sub	3130	T=0.1102	C=0.8898
gnomAD - Genomes	Other	Sub	2154	T=0.2261	C=0.7739
ExAC	Global	Study-wide	121220	T=0.190307	C=0.809693
ExAC	Europe	Sub	73280	T=0.14267	C=0.85733
ExAC	Asian	Sub	25132	T=0.14838	C=0.85162
ExAC	American	Sub	11554	T=0.39735	C=0.60265
ExAC	African	Sub	10352	T=0.40118	C=0.59882
ExAC	Other	Sub	902	T=0.156	C=0.844
Allele Frequency Aggregator	Total	Global	78264	T=0.15969	C=0.84031
Allele Frequency Aggregator	European	Sub	62728	T=0.13873	C=0.86127
Allele Frequency Aggregator	African	Sub	5134	T=0.3627	C=0.6373
Allele Frequency Aggregator	South Asian	Sub	4952	T=0.1652	C=0.8348
Allele Frequency Aggregator	Other	Sub	3718	T=0.1697	C=0.8303
Allele Frequency Aggregator	Latin American 2	Sub	1232	T=0.3174	C=0.6826
Allele Frequency Aggregator	Latin American 1	Sub	254	T=0.228	C=0.772
Allele Frequency Aggregator	Asian	Sub	246	T=0.146	C=0.854
14KJPN	JAPANESE	Study-wide	28256	T=0.08982	C=0.91018
8.3KJPN	JAPANESE	Study-wide	16760	T=0.09153	C=0.90847
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.22313	C=0.77687
GO Exome Sequencing Project	European American	Sub	8600	T=0.1341	C=0.8659
GO Exome Sequencing Project	African American	Sub	4406	T=0.3970	C=0.6030
1000Genomes_30x	Global	Study-wide	6404	T=0.2489	C=0.7511
1000Genomes_30x	African	Sub	1786	T=0.4345	C=0.5655
1000Genomes_30x	Europe	Sub	1266	T=0.1256	C=0.8744
1000Genomes_30x	South Asian	Sub	1202	T=0.1564	C=0.8436
1000Genomes_30x	East Asian	Sub	1170	T=0.0966	C=0.9034
1000Genomes_30x	American	Sub	980	T=0.365	C=0.635
1000Genomes	Global	Study-wide	5008	T=0.2420	C=0.7580
1000Genomes	African	Sub	1322	T=0.4365	C=0.5635
1000Genomes	East Asian	Sub	1008	T=0.1002	C=0.8998
1000Genomes	Europe	Sub	1006	T=0.1292	C=0.8708
1000Genomes	South Asian	Sub	978	T=0.154	C=0.846
1000Genomes	American	Sub	694	T=0.365	C=0.635
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.1600	C=0.8400
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.1341	C=0.8659
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.1348	C=0.8652
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1154	A=0.0000, C=0.8846, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.2370	C=0.7630
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.115	C=0.885
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.181	C=0.819
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.157	C=0.843
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.103	C=0.897
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.475	C=0.525
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.546	C=0.454
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.61	C=0.39
HapMap	Global	Study-wide	1892	T=0.2495	C=0.7505
HapMap	American	Sub	770	T=0.195	C=0.805
HapMap	African	Sub	692	T=0.396	C=0.604
HapMap	Asian	Sub	254	T=0.118	C=0.882
HapMap	Europe	Sub	176	T=0.102	C=0.898
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1179	C=0.8821
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.125	C=0.875
CNV burdens in cranial meningiomas	Global	Study-wide	786	T=0.088	C=0.912
CNV burdens in cranial meningiomas	CRM	Sub	786	T=0.088	C=0.912
Northern Sweden	ACPOP	Study-wide	600	T=0.173	C=0.827
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.125	C=0.875
SGDP_PRJ	Global	Study-wide	498	T=0.177	C=0.823
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.181	C=0.819
Qatari	Global	Study-wide	216	T=0.181	C=0.819
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.094	C=0.906
Siberian	Global	Study-wide	54	T=0.13	C=0.87
The Danish reference pan genome	Danish	Study-wide	40	T=0.15	C=0.85
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	24	T=0.00	C=1.00

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 2	NC_000002.12:g.171855970T>A
GRCh38.p14 chr 2	NC_000002.12:g.171855970T>C
GRCh38.p14 chr 2	NC_000002.12:g.171855970T>G
GRCh37.p13 chr 2	NC_000002.11:g.172712480T>A
GRCh37.p13 chr 2	NC_000002.11:g.172712480T>C
GRCh37.p13 chr 2	NC_000002.11:g.172712480T>G
SLC25A12 RefSeqGene	NG_011781.2:g.43334A>T
SLC25A12 RefSeqGene	NG_011781.2:g.43334A>G
SLC25A12 RefSeqGene	NG_011781.2:g.43334A>C
GRCh38.p14 chr 2 novel patch HSCHR2_11_CTG7_2	NW_025791761.1:g.286143T>A
GRCh38.p14 chr 2 novel patch HSCHR2_11_CTG7_2	NW_025791761.1:g.286143T>C
GRCh38.p14 chr 2 novel patch HSCHR2_11_CTG7_2	NW_025791761.1:g.286143T>G

Gene: SLC25A12, solute carrier family 25 member 12 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC25A12 transcript variant 1	NM_003705.5:c.210-21A>T	N/A	Intron Variant
SLC25A12 transcript variant 2	NR_047549.2:n.	N/A	Intron Variant
SLC25A12 transcript variant X1	XM_047446142.1: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.

Allele: C (allele ID: 1323709 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001807620.2	Developmental and epileptic encephalopathy, 39	Benign

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	T=	A	C	G
GRCh38.p14 chr 2	NC_000002.12:g.171855970=	NC_000002.12:g.171855970T>A	NC_000002.12:g.171855970T>C	NC_000002.12:g.171855970T>G
GRCh37.p13 chr 2	NC_000002.11:g.172712480=	NC_000002.11:g.172712480T>A	NC_000002.11:g.172712480T>C	NC_000002.11:g.172712480T>G
SLC25A12 RefSeqGene	NG_011781.2:g.43334=	NG_011781.2:g.43334A>T	NG_011781.2:g.43334A>G	NG_011781.2:g.43334A>C
GRCh38.p14 chr 2 novel patch HSCHR2_11_CTG7_2	NW_025791761.1:g.286143=	NW_025791761.1:g.286143T>A	NW_025791761.1:g.286143T>C	NW_025791761.1:g.286143T>G
SLC25A12 transcript variant 1	NM_003705.4:c.210-21=	NM_003705.4:c.210-21A>T	NM_003705.4:c.210-21A>G	NM_003705.4:c.210-21A>C
SLC25A12 transcript variant 1	NM_003705.5:c.210-21=	NM_003705.5:c.210-21A>T	NM_003705.5:c.210-21A>G	NM_003705.5:c.210-21A>C
SLC25A12 transcript variant X1	XM_005246923.1:c.159-21=	XM_005246923.1:c.159-21A>T	XM_005246923.1:c.159-21A>G	XM_005246923.1:c.159-21A>C
SLC25A12 transcript variant X2	XM_005246924.1:c.5-11462=	XM_005246924.1:c.5-11462A>T	XM_005246924.1:c.5-11462A>G	XM_005246924.1:c.5-11462A>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#.

125 SubSNP, 28 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2966995	Apr 12, 2001 (94)
2	BCM_SSAHASNP	ss9983717	Jul 11, 2003 (116)
3	WUGSC_SSAHASNP	ss14479849	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss17642896	Feb 27, 2004 (120)
5	SSAHASNP	ss21659531	Apr 05, 2004 (121)
6	IMCJ-GDT	ss28503024	Sep 24, 2004 (126)
7	ILLUMINA	ss66579528	Nov 30, 2006 (127)
8	ILLUMINA	ss67220202	Nov 30, 2006 (127)
9	ILLUMINA	ss67614398	Nov 30, 2006 (127)
10	ILLUMINA	ss70698494	May 23, 2008 (130)
11	ILLUMINA	ss71264295	May 17, 2007 (127)
12	ILLUMINA	ss74951247	Dec 06, 2007 (129)
13	ILLUMINA	ss79110986	Dec 14, 2007 (130)
14	KRIBB_YJKIM	ss83959001	Dec 14, 2007 (130)
15	HGSV	ss84518725	Dec 14, 2007 (130)
16	BCMHGSC_JDW	ss91441212	Mar 24, 2008 (129)
17	HUMANGENOME_JCVI	ss96448624	Feb 04, 2009 (130)
18	BGI	ss106139658	Feb 04, 2009 (130)
19	1000GENOMES	ss110271146	Jan 24, 2009 (130)
20	1000GENOMES	ss111275148	Jan 25, 2009 (130)
21	ILLUMINA-UK	ss117975984	Feb 14, 2009 (130)
22	ILLUMINA	ss121902977	Dec 01, 2009 (131)
23	ENSEMBL	ss136064079	Dec 01, 2009 (131)
24	ILLUMINA	ss153835834	Dec 01, 2009 (131)
25	GMI	ss157987310	Dec 01, 2009 (131)
26	ILLUMINA	ss159353969	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss164852280	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss165614098	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss167417771	Jul 04, 2010 (132)
30	ILLUMINA	ss170983592	Jul 04, 2010 (132)
31	ILLUMINA	ss173076034	Jul 04, 2010 (132)
32	BUSHMAN	ss201376550	Jul 04, 2010 (132)
33	BCM-HGSC-SUB	ss205836679	Jul 04, 2010 (132)
34	1000GENOMES	ss219655954	Jul 14, 2010 (132)
35	1000GENOMES	ss231470415	Jul 14, 2010 (132)
36	1000GENOMES	ss238958971	Jul 15, 2010 (132)
37	GMI	ss276789420	May 04, 2012 (137)
38	GMI	ss284485988	Apr 25, 2013 (138)
39	PJP	ss292425592	May 09, 2011 (134)
40	1000GENOMES	ss489841152	May 04, 2012 (137)
41	CLINSEQ_SNP	ss491794749	May 04, 2012 (137)
42	ILLUMINA	ss535986007	Sep 08, 2015 (146)
43	TISHKOFF	ss556038354	Apr 25, 2013 (138)
44	SSMP	ss649691171	Apr 25, 2013 (138)
45	NHLBI-ESP	ss712465996	Apr 25, 2013 (138)
46	ILLUMINA	ss825441504	Apr 01, 2015 (144)
47	ILLUMINA	ss832865890	Jul 13, 2019 (153)
48	EVA-GONL	ss977648013	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss1069707498	Aug 21, 2014 (142)
50	1000GENOMES	ss1300438627	Aug 21, 2014 (142)
51	DDI	ss1428822444	Apr 01, 2015 (144)
52	EVA_GENOME_DK	ss1579199596	Apr 01, 2015 (144)
53	EVA_FINRISK	ss1584022040	Apr 01, 2015 (144)
54	EVA_DECODE	ss1587085988	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1605153191	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1648147224	Apr 01, 2015 (144)
57	EVA_EXAC	ss1686597104	Apr 01, 2015 (144)
58	EVA_MGP	ss1710987209	Apr 01, 2015 (144)
59	EVA_SVP	ss1712509756	Apr 01, 2015 (144)
60	HAMMER_LAB	ss1797919481	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1920899871	Feb 12, 2016 (147)
62	GENOMED	ss1968953758	Jul 19, 2016 (147)
63	JJLAB	ss2020985197	Sep 14, 2016 (149)
64	USC_VALOUEV	ss2149051133	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2236601078	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2624996911	Nov 08, 2017 (151)
67	GRF	ss2703689393	Nov 08, 2017 (151)
68	GNOMAD	ss2733115130	Nov 08, 2017 (151)
69	GNOMAD	ss2746816824	Nov 08, 2017 (151)
70	GNOMAD	ss2782851073	Nov 08, 2017 (151)
71	SWEGEN	ss2990869745	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3024253094	Nov 08, 2017 (151)
73	CSHL	ss3344607168	Nov 08, 2017 (151)
74	ILLUMINA	ss3628222611	Oct 11, 2018 (152)
75	ILLUMINA	ss3638302311	Oct 11, 2018 (152)
76	ILLUMINA	ss3639155102	Oct 11, 2018 (152)
77	ILLUMINA	ss3639590532	Oct 11, 2018 (152)
78	ILLUMINA	ss3643268237	Oct 11, 2018 (152)
79	OMUKHERJEE_ADBS	ss3646274898	Oct 11, 2018 (152)
80	URBANLAB	ss3647207201	Oct 11, 2018 (152)
81	EGCUT_WGS	ss3658742131	Jul 13, 2019 (153)
82	EVA_DECODE	ss3705431524	Jul 13, 2019 (153)
83	ACPOP	ss3729110096	Jul 13, 2019 (153)
84	EVA	ss3757724234	Jul 13, 2019 (153)
85	PACBIO	ss3784068489	Jul 13, 2019 (153)
86	PACBIO	ss3789620142	Jul 13, 2019 (153)
87	PACBIO	ss3794493134	Jul 13, 2019 (153)
88	KHV_HUMAN_GENOMES	ss3802082880	Jul 13, 2019 (153)
89	EVA	ss3823826533	Apr 25, 2020 (154)
90	EVA	ss3825612864	Apr 25, 2020 (154)
91	EVA	ss3827355899	Apr 25, 2020 (154)
92	EVA	ss3837096137	Apr 25, 2020 (154)
93	EVA	ss3842516128	Apr 25, 2020 (154)
94	HGDP	ss3847641755	Apr 25, 2020 (154)
95	SGDP_PRJ	ss3853981698	Apr 25, 2020 (154)
96	KRGDB	ss3899617921	Apr 25, 2020 (154)
97	KOGIC	ss3949506694	Apr 25, 2020 (154)
98	FSA-LAB	ss3984194108	Apr 26, 2021 (155)
99	FSA-LAB	ss3984194109	Apr 26, 2021 (155)
100	EVA	ss3984493674	Apr 26, 2021 (155)
101	EVA	ss3984937404	Apr 26, 2021 (155)
102	EVA	ss3986204216	Apr 26, 2021 (155)
103	EVA	ss4017034514	Apr 26, 2021 (155)
104	TOPMED	ss4533836815	Apr 26, 2021 (155)
105	TOMMO_GENOMICS	ss5155133462	Apr 26, 2021 (155)
106	EVA	ss5237172497	Apr 26, 2021 (155)
107	1000G_HIGH_COVERAGE	ss5250979696	Oct 12, 2022 (156)
108	EVA	ss5334115543	Oct 12, 2022 (156)
109	HUGCELL_USP	ss5450698434	Oct 12, 2022 (156)
110	EVA	ss5506690617	Oct 12, 2022 (156)
111	1000G_HIGH_COVERAGE	ss5527769140	Oct 12, 2022 (156)
112	EVA	ss5624105514	Oct 12, 2022 (156)
113	SANFORD_IMAGENETICS	ss5630361884	Oct 12, 2022 (156)
114	TOMMO_GENOMICS	ss5685621601	Oct 12, 2022 (156)
115	EVA	ss5800049503	Oct 12, 2022 (156)
116	EVA	ss5800099667	Oct 12, 2022 (156)
117	YY_MCH	ss5802968666	Oct 12, 2022 (156)
118	EVA	ss5821182106	Oct 12, 2022 (156)
119	EVA	ss5848528015	Oct 12, 2022 (156)
120	EVA	ss5852832952	Oct 12, 2022 (156)
121	EVA	ss5933491128	Oct 12, 2022 (156)
122	EVA	ss5936518334	Oct 12, 2022 (156)
123	EVA	ss5956587265	Oct 12, 2022 (156)
124	EVA	ss5980096101	Oct 12, 2022 (156)
125	EVA	ss5981209138	Oct 12, 2022 (156)
126	1000Genomes	NC_000002.11 - 172712480	Oct 11, 2018 (152)
127	1000Genomes_30x	NC_000002.12 - 171855970	Oct 12, 2022 (156)
128	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 172712480	Oct 11, 2018 (152)
129	Genetic variation in the Estonian population	NC_000002.11 - 172712480	Oct 11, 2018 (152)
130	ExAC	NC_000002.11 - 172712480	Oct 11, 2018 (152)
131	FINRISK	NC_000002.11 - 172712480	Apr 25, 2020 (154)
132	The Danish reference pan genome	NC_000002.11 - 172712480	Apr 25, 2020 (154)
133	gnomAD - Genomes	NC_000002.12 - 171855970	Apr 26, 2021 (155)
134	gnomAD - Exomes	NC_000002.11 - 172712480	Jul 13, 2019 (153)
135	GO Exome Sequencing Project	NC_000002.11 - 172712480	Oct 11, 2018 (152)
136	Genome of the Netherlands Release 5	NC_000002.11 - 172712480	Apr 25, 2020 (154)
137	HGDP-CEPH-db Supplement 1	NC_000002.10 - 172420726	Apr 25, 2020 (154)
138	HapMap	NC_000002.12 - 171855970	Apr 25, 2020 (154)
139	KOREAN population from KRGDB	NC_000002.11 - 172712480	Apr 25, 2020 (154)
140	Korean Genome Project	NC_000002.12 - 171855970	Apr 25, 2020 (154)
141	Medical Genome Project healthy controls from Spanish population	NC_000002.11 - 172712480	Apr 25, 2020 (154)
142	Northern Sweden	NC_000002.11 - 172712480	Jul 13, 2019 (153)
143	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000002.11 - 172712480	Apr 26, 2021 (155)
144	CNV burdens in cranial meningiomas	NC_000002.11 - 172712480	Apr 26, 2021 (155)
145	Qatari	NC_000002.11 - 172712480	Apr 25, 2020 (154)
146	SGDP_PRJ	NC_000002.11 - 172712480	Apr 25, 2020 (154)
147	Siberian	NC_000002.11 - 172712480	Apr 25, 2020 (154)
148	8.3KJPN	NC_000002.11 - 172712480	Apr 26, 2021 (155)
149	14KJPN	NC_000002.12 - 171855970	Oct 12, 2022 (156)
150	TopMed	NC_000002.12 - 171855970	Apr 26, 2021 (155)
151	UK 10K study - Twins	NC_000002.11 - 172712480	Oct 11, 2018 (152)
152	A Vietnamese Genetic Variation Database	NC_000002.11 - 172712480	Jul 13, 2019 (153)
153	ALFA	NC_000002.12 - 171855970	Apr 26, 2021 (155)
154	ClinVar	RCV001807620.2	Oct 12, 2022 (156)

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)
rs17848722	Mar 11, 2006 (126)
rs57340771	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6795315, ss3899617921	NC_000002.11:172712479:T:A	NC_000002.12:171855969:T:A	(self)
ss84518725, ss3639155102, ss3639590532	NC_000002.9:172537986:T:C	NC_000002.12:171855969:T:C	(self)
319647, ss91441212, ss110271146, ss111275148, ss117975984, ss164852280, ss165614098, ss167417771, ss201376550, ss205836679, ss276789420, ss284485988, ss292425592, ss491794749, ss825441504, ss1587085988, ss1712509756, ss3643268237, ss3847641755	NC_000002.10:172420725:T:C	NC_000002.12:171855969:T:C	(self)
11496627, 6345255, 4480379, 6490532, 18501, 5364535, 2175014, 284965, 2788207, 6795315, 103748, 2394961, 163331, 43009, 2941801, 5998678, 1567487, 13102769, 6345255, 1379759, ss219655954, ss231470415, ss238958971, ss489841152, ss535986007, ss556038354, ss649691171, ss712465996, ss832865890, ss977648013, ss1069707498, ss1300438627, ss1428822444, ss1579199596, ss1584022040, ss1605153191, ss1648147224, ss1686597104, ss1710987209, ss1797919481, ss1920899871, ss1968953758, ss2020985197, ss2149051133, ss2624996911, ss2703689393, ss2733115130, ss2746816824, ss2782851073, ss2990869745, ss3344607168, ss3628222611, ss3638302311, ss3646274898, ss3658742131, ss3729110096, ss3757724234, ss3784068489, ss3789620142, ss3794493134, ss3823826533, ss3825612864, ss3827355899, ss3837096137, ss3853981698, ss3899617921, ss3984194108, ss3984194109, ss3984493674, ss3984937404, ss3986204216, ss4017034514, ss5155133462, ss5334115543, ss5506690617, ss5624105514, ss5630361884, ss5800049503, ss5800099667, ss5821182106, ss5848528015, ss5936518334, ss5956587265, ss5980096101, ss5981209138	NC_000002.11:172712479:T:C	NC_000002.12:171855969:T:C	(self)
RCV001807620.2, 15295075, 81957481, 1949500, 5884695, 19458705, 337659694, 11581914302, ss2236601078, ss3024253094, ss3647207201, ss3705431524, ss3802082880, ss3842516128, ss3949506694, ss4533836815, ss5237172497, ss5250979696, ss5450698434, ss5527769140, ss5685621601, ss5802968666, ss5852832952, ss5933491128	NC_000002.12:171855969:T:C	NC_000002.12:171855969:T:C	(self)
ss9983717	NT_005403.13:22871817:T:C	NC_000002.12:171855969:T:C	(self)
ss14479849, ss17642896, ss21659531	NT_005403.14:22921896:T:C	NC_000002.12:171855969:T:C	(self)
ss2966995, ss28503024, ss66579528, ss67220202, ss67614398, ss70698494, ss71264295, ss74951247, ss79110986, ss83959001, ss96448624, ss106139658, ss121902977, ss136064079, ss153835834, ss157987310, ss159353969, ss170983592, ss173076034	NT_005403.17:22921897:T:C	NC_000002.12:171855969:T:C	(self)
6795315, ss3899617921	NC_000002.11:172712479:T:G	NC_000002.12:171855969:T:G	(self)

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

13 citations for rs2056202

PMID	Title	Author	Year	Journal
15056512	Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism.	Ramoz N et al.	2004	The American journal of psychiatry
16263864	Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31.	Segurado R et al.	2005	The American journal of psychiatry
17894412	Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism.	Silverman JM et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
18348195	An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene.	Ramoz N et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
19360665	Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism.	Turunen JA et al.	2008	Autism research
19913066	Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan.	Chien WH et al.	2010	Progress in neuro-psychopharmacology & biological psychiatry
21609426	A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders.	Kim SJ et al.	2011	Molecular autism
24679184	Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome.	Durdiaková J et al.	2014	Molecular autism
25663231	PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.	Beecham GW et al.	2015	Neurology
25921325	Association between genetic variants in SLC25A12 and risk of autism spectrum disorders: An integrated meta-analysis.	Liu J et al.	2015	American journal of medical genetics. Part B, Neuropsychiatric genetics
26322220	A comprehensive meta-analysis of common genetic variants in autism spectrum conditions.	Warrier V et al.	2015	Molecular autism
28536923	Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population.	Liu J et al.	2017	Journal of molecular neuroscience
34115189	Genetic risk factors for autism-spectrum disorders: a systematic review based on systematic reviews and meta-analysis.	Wei H et al.	2021	Journal of neural transmission (Vienna, Austria

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2056202