Name: rs1950902
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.

rs1950902

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:64415662 (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>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.176609 (65617/371538, ALFA)
A=0.164169 (43454/264690, TOPMED)
A=0.165411 (41232/249270, GnomAD_exome) (+ 26 more)
A=0.172932 (24234/140136, GnomAD)
A=0.166920 (20246/121292, ExAC)
A=0.15614 (12287/78690, PAGE_STUDY)
A=0.21205 (5992/28258, 14KJPN)
A=0.21492 (3602/16760, 8.3KJPN)
A=0.16846 (2191/13006, GO-ESP)
A=0.1710 (1095/6404, 1000G_30x)
A=0.1765 (884/5008, 1000G)
A=0.2167 (971/4480, Estonian)
A=0.1905 (734/3854, ALSPAC)
A=0.1842 (683/3708, TWINSUK)
A=0.2338 (685/2930, KOREAN)
A=0.1732 (361/2084, HGDP_Stanford)
A=0.1506 (285/1892, HapMap)
A=0.2260 (414/1832, Korea1K)
A=0.1294 (146/1128, Daghestan)
A=0.194 (194/998, GoNL)
A=0.450 (276/614, Vietnamese)
A=0.247 (148/600, NorthernSweden)
A=0.127 (68/534, MGP)
A=0.156 (81/518, SGDP_PRJ)
A=0.174 (53/304, FINRISK)
A=0.065 (14/216, Qatari)
A=0.08 (6/74, Ancient Sardinia)
A=0.19 (10/54, Siberian)
A=0.15 (6/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MTHFD1 : Missense Variant
Publications: 30 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	387888	A=0.176373	G=0.823627	0.032148	0.679402	0.288449	6
European	Sub	330584	A=0.176727	G=0.823273	0.031484	0.67803	0.290486	0
African	Sub	16556	A=0.15632	G=0.84368	0.024281	0.711645	0.264073	0
African Others	Sub	594	A=0.136	G=0.864	0.013468	0.740741	0.245791	0
African American	Sub	15962	A=0.15706	G=0.84294	0.024684	0.710563	0.264754	0
Asian	Sub	6974	A=0.2908	G=0.7092	0.087755	0.506166	0.40608	1
East Asian	Sub	5006	A=0.2695	G=0.7305	0.074311	0.535358	0.390332	0
Other Asian	Sub	1968	A=0.3450	G=0.6550	0.121951	0.431911	0.446138	0
Latin American 1	Sub	1426	A=0.1438	G=0.8562	0.029453	0.741935	0.228612	2
Latin American 2	Sub	3178	A=0.1013	G=0.8987	0.012587	0.809943	0.17747	1
South Asian	Sub	5226	A=0.0769	G=0.9231	0.010333	0.856487	0.13318	6
Other	Sub	23944	A=0.18564	G=0.81436	0.038089	0.666806	0.295105	4

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	371538	A=0.176609	G=0.823391
Allele Frequency Aggregator	European	Sub	320516	A=0.176784	G=0.823216
Allele Frequency Aggregator	Other	Sub	22498	A=0.18557	G=0.81443
Allele Frequency Aggregator	African	Sub	11720	A=0.15555	G=0.84445
Allele Frequency Aggregator	Asian	Sub	6974	A=0.2908	G=0.7092
Allele Frequency Aggregator	South Asian	Sub	5226	A=0.0769	G=0.9231
Allele Frequency Aggregator	Latin American 2	Sub	3178	A=0.1013	G=0.8987
Allele Frequency Aggregator	Latin American 1	Sub	1426	A=0.1438	G=0.8562
TopMed	Global	Study-wide	264690	A=0.164169	G=0.835831
gnomAD - Exomes	Global	Study-wide	249270	A=0.165411	G=0.834589
gnomAD - Exomes	European	Sub	133278	A=0.183939	G=0.816061
gnomAD - Exomes	Asian	Sub	48988	A=0.17312	G=0.82688
gnomAD - Exomes	American	Sub	34576	A=0.09107	G=0.90893
gnomAD - Exomes	African	Sub	16246	A=0.15222	G=0.84778
gnomAD - Exomes	Ashkenazi Jewish	Sub	10066	A=0.16054	G=0.83946
gnomAD - Exomes	Other	Sub	6116	A=0.1632	G=0.8368
gnomAD - Genomes	Global	Study-wide	140136	A=0.172932	G=0.827068
gnomAD - Genomes	European	Sub	75904	A=0.18813	G=0.81187
gnomAD - Genomes	African	Sub	41990	A=0.15439	G=0.84561
gnomAD - Genomes	American	Sub	13650	A=0.11077	G=0.88923
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.1531	G=0.8469
gnomAD - Genomes	East Asian	Sub	3118	A=0.3499	G=0.6501
gnomAD - Genomes	Other	Sub	2150	A=0.1670	G=0.8330
ExAC	Global	Study-wide	121292	A=0.166920	G=0.833080
ExAC	Europe	Sub	73292	A=0.18245	G=0.81755
ExAC	Asian	Sub	25134	A=0.16269	G=0.83731
ExAC	American	Sub	11564	A=0.08725	G=0.91275
ExAC	African	Sub	10394	A=0.15778	G=0.84222
ExAC	Other	Sub	908	A=0.150	G=0.850
The PAGE Study	Global	Study-wide	78690	A=0.15614	G=0.84386
The PAGE Study	AfricanAmerican	Sub	32512	A=0.15779	G=0.84221
The PAGE Study	Mexican	Sub	10810	A=0.09528	G=0.90472
The PAGE Study	Asian	Sub	8314	A=0.2457	G=0.7543
The PAGE Study	PuertoRican	Sub	7916	A=0.1285	G=0.8715
The PAGE Study	NativeHawaiian	Sub	4534	A=0.2971	G=0.7029
The PAGE Study	Cuban	Sub	4230	A=0.1307	G=0.8693
The PAGE Study	Dominican	Sub	3828	A=0.1327	G=0.8673
The PAGE Study	CentralAmerican	Sub	2448	A=0.0997	G=0.9003
The PAGE Study	SouthAmerican	Sub	1982	A=0.0767	G=0.9233
The PAGE Study	NativeAmerican	Sub	1260	A=0.1484	G=0.8516
The PAGE Study	SouthAsian	Sub	856	A=0.089	G=0.911
14KJPN	JAPANESE	Study-wide	28258	A=0.21205	G=0.78795
8.3KJPN	JAPANESE	Study-wide	16760	A=0.21492	G=0.78508
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.16846	G=0.83154
GO Exome Sequencing Project	European American	Sub	8600	A=0.1759	G=0.8241
GO Exome Sequencing Project	African American	Sub	4406	A=0.1539	G=0.8461
1000Genomes_30x	Global	Study-wide	6404	A=0.1710	G=0.8290
1000Genomes_30x	African	Sub	1786	A=0.1366	G=0.8634
1000Genomes_30x	Europe	Sub	1266	A=0.2022	G=0.7978
1000Genomes_30x	South Asian	Sub	1202	A=0.0740	G=0.9260
1000Genomes_30x	East Asian	Sub	1170	A=0.3624	G=0.6376
1000Genomes_30x	American	Sub	980	A=0.084	G=0.916
1000Genomes	Global	Study-wide	5008	A=0.1765	G=0.8235
1000Genomes	African	Sub	1322	A=0.1384	G=0.8616
1000Genomes	East Asian	Sub	1008	A=0.3552	G=0.6448
1000Genomes	Europe	Sub	1006	A=0.2038	G=0.7962
1000Genomes	South Asian	Sub	978	A=0.078	G=0.922
1000Genomes	American	Sub	694	A=0.089	G=0.911
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.2167	G=0.7833
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.1905	G=0.8095
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.1842	G=0.8158
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2338	C=0.0000, G=0.7662, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.1732	G=0.8268
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.304	G=0.696
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.118	G=0.882
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.100	G=0.900
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.172	G=0.828
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.178	G=0.822
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.005	G=0.995
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.49	G=0.51
HapMap	Global	Study-wide	1892	A=0.1506	G=0.8494
HapMap	American	Sub	770	A=0.164	G=0.836
HapMap	African	Sub	692	A=0.107	G=0.893
HapMap	Asian	Sub	254	A=0.240	G=0.760
HapMap	Europe	Sub	176	A=0.136	G=0.864
Korean Genome Project	KOREAN	Study-wide	1832	A=0.2260	G=0.7740
Genome-wide autozygosity in Daghestan	Global	Study-wide	1128	A=0.1294	G=0.8706
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	A=0.147	G=0.853
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	A=0.134	G=0.866
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.139	G=0.861
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.093	G=0.907
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	A=0.07	G=0.93
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.03	G=0.97
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.194	G=0.806
A Vietnamese Genetic Variation Database	Global	Study-wide	614	A=0.450	G=0.550
Northern Sweden	ACPOP	Study-wide	600	A=0.247	G=0.753
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.127	G=0.873
SGDP_PRJ	Global	Study-wide	518	A=0.156	G=0.844
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.174	G=0.826
Qatari	Global	Study-wide	216	A=0.065	G=0.935
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	A=0.08	G=0.92
Siberian	Global	Study-wide	54	A=0.19	G=0.81
The Danish reference pan genome	Danish	Study-wide	40	A=0.15	G=0.85

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 14	NC_000014.9:g.64415662A>C
GRCh38.p14 chr 14	NC_000014.9:g.64415662A>G
GRCh38.p14 chr 14	NC_000014.9:g.64415662A>T
GRCh37.p13 chr 14	NC_000014.8:g.64882380A>C
GRCh37.p13 chr 14	NC_000014.8:g.64882380A>G
GRCh37.p13 chr 14	NC_000014.8:g.64882380A>T
MTHFD1 RefSeqGene (LRG_1243)	NG_012450.2:g.32622A>C
MTHFD1 RefSeqGene (LRG_1243)	NG_012450.2:g.32622A>G
MTHFD1 RefSeqGene (LRG_1243)	NG_012450.2:g.32622A>T

Gene: MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MTHFD1 transcript variant 1	NM_005956.4:c.401A>C	K [AAA] > T [ACA]	Coding Sequence Variant
C-1-tetrahydrofolate synthase, cytoplasmic isoform 1	NP_005947.3:p.Lys134Thr	K (Lys) > T (Thr)	Missense Variant
MTHFD1 transcript variant 1	NM_005956.4:c.401A>G	K [AAA] > R [AGA]	Coding Sequence Variant
C-1-tetrahydrofolate synthase, cytoplasmic isoform 1	NP_005947.3:p.Lys134Arg	K (Lys) > R (Arg)	Missense Variant
MTHFD1 transcript variant 1	NM_005956.4:c.401A>T	K [AAA] > I [ATA]	Coding Sequence Variant
C-1-tetrahydrofolate synthase, cytoplasmic isoform 1	NP_005947.3:p.Lys134Ile	K (Lys) > I (Ile)	Missense Variant
MTHFD1 transcript variant 2	NM_001364837.1:c.401A>C	K [AAA] > T [ACA]	Coding Sequence Variant
C-1-tetrahydrofolate synthase, cytoplasmic isoform 2	NP_001351766.1:p.Lys134Thr	K (Lys) > T (Thr)	Missense Variant
MTHFD1 transcript variant 2	NM_001364837.1:c.401A>G	K [AAA] > R [AGA]	Coding Sequence Variant
C-1-tetrahydrofolate synthase, cytoplasmic isoform 2	NP_001351766.1:p.Lys134Arg	K (Lys) > R (Arg)	Missense Variant
MTHFD1 transcript variant 2	NM_001364837.1:c.401A>T	K [AAA] > I [ATA]	Coding Sequence Variant
C-1-tetrahydrofolate synthase, cytoplasmic isoform 2	NP_001351766.1:p.Lys134Ile	K (Lys) > I (Ile)	Missense 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: G (allele ID: 390190 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000455974.4	not specified	Benign
RCV001516295.4	not provided	Benign
RCV001775796.2	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	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	A=	C	G	T
GRCh38.p14 chr 14	NC_000014.9:g.64415662=	NC_000014.9:g.64415662A>C	NC_000014.9:g.64415662A>G	NC_000014.9:g.64415662A>T
GRCh37.p13 chr 14	NC_000014.8:g.64882380=	NC_000014.8:g.64882380A>C	NC_000014.8:g.64882380A>G	NC_000014.8:g.64882380A>T
MTHFD1 RefSeqGene (LRG_1243)	NG_012450.2:g.32622=	NG_012450.2:g.32622A>C	NG_012450.2:g.32622A>G	NG_012450.2:g.32622A>T
MTHFD1 transcript variant 1	NM_005956.4:c.401=	NM_005956.4:c.401A>C	NM_005956.4:c.401A>G	NM_005956.4:c.401A>T
MTHFD1 transcript	NM_005956.3:c.401=	NM_005956.3:c.401A>C	NM_005956.3:c.401A>G	NM_005956.3:c.401A>T
MTHFD1 transcript variant 2	NM_001364837.1:c.401=	NM_001364837.1:c.401A>C	NM_001364837.1:c.401A>G	NM_001364837.1:c.401A>T
C-1-tetrahydrofolate synthase, cytoplasmic isoform 1	NP_005947.3:p.Lys134=	NP_005947.3:p.Lys134Thr	NP_005947.3:p.Lys134Arg	NP_005947.3:p.Lys134Ile
C-1-tetrahydrofolate synthase, cytoplasmic isoform 2	NP_001351766.1:p.Lys134=	NP_001351766.1:p.Lys134Thr	NP_001351766.1:p.Lys134Arg	NP_001351766.1:p.Lys134Ile

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#.

207 SubSNP, 31 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2845017	Jan 12, 2001 (92)
2	AFFX	ss2982424	Jun 15, 2001 (100)
3	YUSUKE	ss3239445	Sep 28, 2001 (100)
4	BCM_SSAHASNP	ss10747980	Jul 11, 2003 (116)
5	WI_SSAHASNP	ss14387249	Dec 05, 2003 (119)
6	CSHL-HAPMAP	ss16657476	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss17526847	Feb 27, 2004 (120)
8	SSAHASNP	ss21201766	Apr 05, 2004 (121)
9	PERLEGEN	ss24129796	Sep 20, 2004 (123)
10	MGC_GENOME_DIFF	ss28508935	Sep 24, 2004 (126)
11	MGC_GENOME_DIFF	ss28512362	Sep 24, 2004 (126)
12	SNP500CANCER	ss48295777	Mar 10, 2006 (126)
13	APPLERA_GI	ss48402353	Mar 10, 2006 (126)
14	ILLUMINA	ss66707580	Dec 01, 2006 (127)
15	ILLUMINA	ss67209854	Dec 01, 2006 (127)
16	ILLUMINA	ss67602842	Dec 01, 2006 (127)
17	PERLEGEN	ss69160025	May 17, 2007 (127)
18	ILLUMINA	ss70688106	May 23, 2008 (130)
19	ILLUMINA	ss71252707	May 17, 2007 (127)
20	AFFY	ss74807897	Aug 16, 2007 (128)
21	ILLUMINA	ss75641004	Dec 06, 2007 (129)
22	SI_EXO	ss76897079	Dec 06, 2007 (129)
23	HGSV	ss78646784	Dec 06, 2007 (129)
24	ILLUMINA	ss79103443	Dec 14, 2007 (130)
25	KRIBB_YJKIM	ss80732204	Dec 14, 2007 (130)
26	HGSV	ss82088044	Dec 14, 2007 (130)
27	KRIBB_YJKIM	ss83927343	Dec 14, 2007 (130)
28	HUMANGENOME_JCVI	ss96864920	Feb 04, 2009 (130)
29	BGI	ss103192445	Dec 01, 2009 (131)
30	1000GENOMES	ss108405447	Jan 23, 2009 (130)
31	1000GENOMES	ss113438333	Jan 25, 2009 (130)
32	ILLUMINA-UK	ss118535873	Feb 14, 2009 (130)
33	ILLUMINA	ss121863149	Dec 01, 2009 (131)
34	ENSEMBL	ss137015005	Dec 01, 2009 (131)
35	ILLUMINA	ss153792044	Dec 01, 2009 (131)
36	GMI	ss155906227	Dec 01, 2009 (131)
37	ILLUMINA	ss159343206	Dec 01, 2009 (131)
38	SEATTLESEQ	ss159729419	Dec 01, 2009 (131)
39	ILLUMINA	ss160480600	Dec 01, 2009 (131)
40	COMPLETE_GENOMICS	ss168210797	Jul 04, 2010 (132)
41	COMPLETE_GENOMICS	ss169761230	Jul 04, 2010 (132)
42	ILLUMINA	ss170903098	Jul 04, 2010 (132)
43	COMPLETE_GENOMICS	ss171249624	Jul 04, 2010 (132)
44	ILLUMINA	ss173007009	Jul 04, 2010 (132)
45	BUSHMAN	ss200183442	Jul 04, 2010 (132)
46	BCM-HGSC-SUB	ss206958145	Jul 04, 2010 (132)
47	1000GENOMES	ss226615454	Jul 14, 2010 (132)
48	1000GENOMES	ss236575821	Jul 15, 2010 (132)
49	1000GENOMES	ss243003664	Jul 15, 2010 (132)
50	ILLUMINA	ss244285835	Jul 04, 2010 (132)
51	BL	ss255053110	May 09, 2011 (134)
52	GMI	ss282038167	May 04, 2012 (137)
53	GMI	ss286857351	Apr 25, 2013 (138)
54	PJP	ss291617995	May 09, 2011 (134)
55	NHLBI-ESP	ss342389234	May 09, 2011 (134)
56	ILLUMINA	ss480356664	May 04, 2012 (137)
57	ILLUMINA	ss480368630	May 04, 2012 (137)
58	ILLUMINA	ss481137809	Sep 08, 2015 (146)
59	ILLUMINA	ss484975921	May 04, 2012 (137)
60	1000GENOMES	ss491070503	May 04, 2012 (137)
61	EXOME_CHIP	ss491486033	May 04, 2012 (137)
62	CLINSEQ_SNP	ss491688801	May 04, 2012 (137)
63	ILLUMINA	ss532915980	Sep 08, 2015 (146)
64	TISHKOFF	ss564146851	Apr 25, 2013 (138)
65	SSMP	ss659831788	Apr 25, 2013 (138)
66	ILLUMINA	ss778847467	Sep 08, 2015 (146)
67	ILLUMINA	ss780702117	Aug 21, 2014 (142)
68	ILLUMINA	ss782934258	Sep 08, 2015 (146)
69	ILLUMINA	ss783376419	Aug 21, 2014 (142)
70	ILLUMINA	ss783897014	Sep 08, 2015 (146)
71	ILLUMINA	ss825433961	Apr 01, 2015 (144)
72	ILLUMINA	ss832189742	Sep 08, 2015 (146)
73	ILLUMINA	ss832855171	Jul 13, 2019 (153)
74	ILLUMINA	ss834308080	Sep 08, 2015 (146)
75	JMKIDD_LAB	ss974488895	Aug 21, 2014 (142)
76	EVA-GONL	ss991238711	Aug 21, 2014 (142)
77	JMKIDD_LAB	ss1067546352	Aug 21, 2014 (142)
78	JMKIDD_LAB	ss1079726439	Aug 21, 2014 (142)
79	1000GENOMES	ss1351360111	Aug 21, 2014 (142)
80	HAMMER_LAB	ss1397683156	Sep 08, 2015 (146)
81	DDI	ss1427451278	Apr 01, 2015 (144)
82	EVA_GENOME_DK	ss1577309793	Apr 01, 2015 (144)
83	EVA_FINRISK	ss1584090238	Apr 01, 2015 (144)
84	EVA_UK10K_ALSPAC	ss1631924635	Apr 01, 2015 (144)
85	EVA_UK10K_TWINSUK	ss1674918668	Apr 01, 2015 (144)
86	EVA_EXAC	ss1691517934	Apr 01, 2015 (144)
87	EVA_DECODE	ss1695242760	Apr 01, 2015 (144)
88	EVA_MGP	ss1711374922	Apr 01, 2015 (144)
89	EVA_SVP	ss1713451203	Apr 01, 2015 (144)
90	ILLUMINA	ss1752138432	Sep 08, 2015 (146)
91	ILLUMINA	ss1752138433	Sep 08, 2015 (146)
92	HAMMER_LAB	ss1807962132	Sep 08, 2015 (146)
93	ILLUMINA	ss1917889534	Feb 12, 2016 (147)
94	WEILL_CORNELL_DGM	ss1934613467	Feb 12, 2016 (147)
95	ILLUMINA	ss1946379057	Feb 12, 2016 (147)
96	ILLUMINA	ss1946379058	Feb 12, 2016 (147)
97	ILLUMINA	ss1959561100	Feb 12, 2016 (147)
98	ILLUMINA	ss1959561101	Feb 12, 2016 (147)
99	AMU	ss1966652155	Feb 12, 2016 (147)
100	GENOMED	ss1967983008	Jul 19, 2016 (147)
101	JJLAB	ss2028085913	Sep 14, 2016 (149)
102	ILLUMINA	ss2095051013	Dec 20, 2016 (150)
103	USC_VALOUEV	ss2156462274	Dec 20, 2016 (150)
104	HUMAN_LONGEVITY	ss2202719431	Dec 20, 2016 (150)
105	SYSTEMSBIOZJU	ss2628533552	Nov 08, 2017 (151)
106	ILLUMINA	ss2633162605	Nov 08, 2017 (151)
107	ILLUMINA	ss2635052768	Nov 08, 2017 (151)
108	GRF	ss2700890477	Nov 08, 2017 (151)
109	ILLUMINA	ss2710802564	Nov 08, 2017 (151)
110	GNOMAD	ss2740772045	Nov 08, 2017 (151)
111	GNOMAD	ss2749153917	Nov 08, 2017 (151)
112	GNOMAD	ss2928710531	Nov 08, 2017 (151)
113	AFFY	ss2985023881	Nov 08, 2017 (151)
114	AFFY	ss2985656803	Nov 08, 2017 (151)
115	SWEGEN	ss3012345152	Nov 08, 2017 (151)
116	ILLUMINA	ss3021577119	Nov 08, 2017 (151)
117	ILLUMINA	ss3021577120	Nov 08, 2017 (151)
118	BIOINF_KMB_FNS_UNIBA	ss3027868649	Nov 08, 2017 (151)
119	CSHL	ss3350847961	Nov 08, 2017 (151)
120	ILLUMINA	ss3625660661	Oct 12, 2018 (152)
121	ILLUMINA	ss3627239552	Oct 12, 2018 (152)
122	ILLUMINA	ss3627239553	Oct 12, 2018 (152)
123	ILLUMINA	ss3631160158	Oct 12, 2018 (152)
124	ILLUMINA	ss3633079264	Oct 12, 2018 (152)
125	ILLUMINA	ss3633782808	Oct 12, 2018 (152)
126	ILLUMINA	ss3634580840	Oct 12, 2018 (152)
127	ILLUMINA	ss3634580841	Oct 12, 2018 (152)
128	ILLUMINA	ss3635472231	Oct 12, 2018 (152)
129	ILLUMINA	ss3636270494	Oct 12, 2018 (152)
130	ILLUMINA	ss3637223395	Oct 12, 2018 (152)
131	ILLUMINA	ss3638055412	Oct 12, 2018 (152)
132	ILLUMINA	ss3639041283	Oct 12, 2018 (152)
133	ILLUMINA	ss3639525360	Oct 12, 2018 (152)
134	ILLUMINA	ss3640288167	Oct 12, 2018 (152)
135	ILLUMINA	ss3640288168	Oct 12, 2018 (152)
136	ILLUMINA	ss3641052142	Oct 12, 2018 (152)
137	ILLUMINA	ss3641347192	Oct 12, 2018 (152)
138	ILLUMINA	ss3643041820	Oct 12, 2018 (152)
139	ILLUMINA	ss3644632174	Oct 12, 2018 (152)
140	ILLUMINA	ss3644632175	Oct 12, 2018 (152)
141	OMUKHERJEE_ADBS	ss3646461352	Oct 12, 2018 (152)
142	URBANLAB	ss3650226669	Oct 12, 2018 (152)
143	ILLUMINA	ss3651970394	Oct 12, 2018 (152)
144	ILLUMINA	ss3651970395	Oct 12, 2018 (152)
145	ILLUMINA	ss3653794993	Oct 12, 2018 (152)
146	EGCUT_WGS	ss3679599403	Jul 13, 2019 (153)
147	EVA_DECODE	ss3696854582	Jul 13, 2019 (153)
148	ILLUMINA	ss3725455319	Jul 13, 2019 (153)
149	ACPOP	ss3740459666	Jul 13, 2019 (153)
150	ILLUMINA	ss3744123487	Jul 13, 2019 (153)
151	ILLUMINA	ss3744412683	Jul 13, 2019 (153)
152	ILLUMINA	ss3744881437	Jul 13, 2019 (153)
153	ILLUMINA	ss3744881438	Jul 13, 2019 (153)
154	EVA	ss3752430565	Jul 13, 2019 (153)
155	PAGE_CC	ss3771794658	Jul 13, 2019 (153)
156	ILLUMINA	ss3772380268	Jul 13, 2019 (153)
157	ILLUMINA	ss3772380269	Jul 13, 2019 (153)
158	PACBIO	ss3787690053	Jul 13, 2019 (153)
159	PACBIO	ss3792724763	Jul 13, 2019 (153)
160	PACBIO	ss3797609040	Jul 13, 2019 (153)
161	KHV_HUMAN_GENOMES	ss3817763382	Jul 13, 2019 (153)
162	EVA	ss3824857470	Apr 27, 2020 (154)
163	EVA	ss3825847375	Apr 27, 2020 (154)
164	EVA	ss3833965107	Apr 27, 2020 (154)
165	EVA	ss3840575953	Apr 27, 2020 (154)
166	EVA	ss3846065272	Apr 27, 2020 (154)
167	HGDP	ss3847506334	Apr 27, 2020 (154)
168	SGDP_PRJ	ss3881694534	Apr 27, 2020 (154)
169	KRGDB	ss3930727350	Apr 27, 2020 (154)
170	KOGIC	ss3975102427	Apr 27, 2020 (154)
171	FSA-LAB	ss3984057809	Apr 27, 2021 (155)
172	EVA	ss3984692911	Apr 27, 2021 (155)
173	EVA	ss3984692912	Apr 27, 2021 (155)
174	EVA	ss3985684989	Apr 27, 2021 (155)
175	EVA	ss3986621591	Apr 27, 2021 (155)
176	EVA	ss4017674763	Apr 27, 2021 (155)
177	TOPMED	ss4973741819	Apr 27, 2021 (155)
178	TOMMO_GENOMICS	ss5213634373	Apr 27, 2021 (155)
179	EVA	ss5236917752	Apr 27, 2021 (155)
180	EVA	ss5237226628	Apr 27, 2021 (155)
181	EVA	ss5237662678	Oct 16, 2022 (156)
182	FAHOSYSU	ss5240819075	Oct 16, 2022 (156)
183	1000G_HIGH_COVERAGE	ss5296535447	Oct 16, 2022 (156)
184	EVA	ss5315743870	Oct 16, 2022 (156)
185	EVA	ss5415833905	Oct 16, 2022 (156)
186	HUGCELL_USP	ss5490547425	Oct 16, 2022 (156)
187	EVA	ss5511274150	Oct 16, 2022 (156)
188	1000G_HIGH_COVERAGE	ss5596975649	Oct 16, 2022 (156)
189	EVA	ss5623962276	Oct 16, 2022 (156)
190	EVA	ss5624046010	Oct 16, 2022 (156)
191	SANFORD_IMAGENETICS	ss5624346056	Oct 16, 2022 (156)
192	SANFORD_IMAGENETICS	ss5656398061	Oct 16, 2022 (156)
193	TOMMO_GENOMICS	ss5766552698	Oct 16, 2022 (156)
194	EVA	ss5799922308	Oct 16, 2022 (156)
195	EVA	ss5800066966	Oct 16, 2022 (156)
196	EVA	ss5800188245	Oct 16, 2022 (156)
197	YY_MCH	ss5814829738	Oct 16, 2022 (156)
198	EVA	ss5841230778	Oct 16, 2022 (156)
199	EVA	ss5847438767	Oct 16, 2022 (156)
200	EVA	ss5848385814	Oct 16, 2022 (156)
201	EVA	ss5851071223	Oct 16, 2022 (156)
202	EVA	ss5901698329	Oct 16, 2022 (156)
203	EVA	ss5936557618	Oct 16, 2022 (156)
204	EVA	ss5947837561	Oct 16, 2022 (156)
205	EVA	ss5979443460	Oct 16, 2022 (156)
206	EVA	ss5980832354	Oct 16, 2022 (156)
207	EVA	ss5981284972	Oct 16, 2022 (156)
208	1000Genomes	NC_000014.8 - 64882380	Oct 12, 2018 (152)
209	1000Genomes_30x	NC_000014.9 - 64415662	Oct 16, 2022 (156)
210	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 64882380	Oct 12, 2018 (152)
211	Genome-wide autozygosity in Daghestan	NC_000014.7 - 63952133	Apr 27, 2020 (154)
212	Genetic variation in the Estonian population	NC_000014.8 - 64882380	Oct 12, 2018 (152)
213	ExAC	NC_000014.8 - 64882380	Oct 12, 2018 (152)
214	FINRISK	NC_000014.8 - 64882380	Apr 27, 2020 (154)
215	The Danish reference pan genome	NC_000014.8 - 64882380	Apr 27, 2020 (154)
216	gnomAD - Genomes	NC_000014.9 - 64415662	Apr 27, 2021 (155)
217	gnomAD - Exomes	NC_000014.8 - 64882380	Jul 13, 2019 (153)
218	GO Exome Sequencing Project	NC_000014.8 - 64882380	Oct 12, 2018 (152)
219	Genome of the Netherlands Release 5	NC_000014.8 - 64882380	Apr 27, 2020 (154)
220	HGDP-CEPH-db Supplement 1	NC_000014.7 - 63952133	Apr 27, 2020 (154)
221	HapMap	NC_000014.9 - 64415662	Apr 27, 2020 (154)
222	KOREAN population from KRGDB	NC_000014.8 - 64882380	Apr 27, 2020 (154)
223	Korean Genome Project	NC_000014.9 - 64415662	Apr 27, 2020 (154)
224	Medical Genome Project healthy controls from Spanish population	NC_000014.8 - 64882380	Apr 27, 2020 (154)
225	Northern Sweden	NC_000014.8 - 64882380	Jul 13, 2019 (153)
226	The PAGE Study	NC_000014.9 - 64415662	Jul 13, 2019 (153)
227	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000014.8 - 64882380	Apr 27, 2021 (155)
228	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 242428 (NC_000014.8:64882379:A:G 544/752) Row 242429 (NC_000014.8:64882379:A:G 550/762)	-	Apr 27, 2021 (155)
229	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 242428 (NC_000014.8:64882379:A:G 544/752) Row 242429 (NC_000014.8:64882379:A:G 550/762)	-	Apr 27, 2021 (155)
230	Qatari	NC_000014.8 - 64882380	Apr 27, 2020 (154)
231	SGDP_PRJ	NC_000014.8 - 64882380	Apr 27, 2020 (154)
232	Siberian	NC_000014.8 - 64882380	Apr 27, 2020 (154)
233	8.3KJPN	NC_000014.8 - 64882380	Apr 27, 2021 (155)
234	14KJPN	NC_000014.9 - 64415662	Oct 16, 2022 (156)
235	TopMed	NC_000014.9 - 64415662	Apr 27, 2021 (155)
236	UK 10K study - Twins	NC_000014.8 - 64882380	Oct 12, 2018 (152)
237	A Vietnamese Genetic Variation Database	NC_000014.8 - 64882380	Jul 13, 2019 (153)
238	ALFA	NC_000014.9 - 64415662	Apr 27, 2021 (155)
239	ClinVar	RCV000455974.4	Oct 16, 2022 (156)
240	ClinVar	RCV001516295.4	Oct 16, 2022 (156)
241	ClinVar	RCV001775796.2	Oct 16, 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)
rs2070262	Sep 28, 2001 (100)
rs17854633	Mar 10, 2006 (126)
rs17858060	Mar 10, 2006 (126)
rs52808281	Sep 21, 2007 (128)
rs57359350	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
37904744, ss3930727350	NC_000014.8:64882379:A:C	NC_000014.9:64415661:A:C	(self)
153480, 184226, ss78646784, ss82088044, ss108405447, ss113438333, ss118535873, ss160480600, ss168210797, ss169761230, ss171249624, ss200183442, ss206958145, ss244285835, ss255053110, ss282038167, ss286857351, ss291617995, ss480356664, ss491688801, ss825433961, ss1397683156, ss1695242760, ss1713451203, ss2635052768, ss3639041283, ss3639525360, ss3643041820, ss3847506334	NC_000014.7:63952132:A:G	NC_000014.9:64415661:A:G	(self)
64354349, 35752403, 25337651, 1866255, 86699, 3640227, 10025281, 1314801, 15967349, 37904744, 490682, 13744531, 910916, 16655397, 33711514, 8978628, 71603680, 35752403, 7954527, ss226615454, ss236575821, ss243003664, ss342389234, ss480368630, ss481137809, ss484975921, ss491070503, ss491486033, ss532915980, ss564146851, ss659831788, ss778847467, ss780702117, ss782934258, ss783376419, ss783897014, ss832189742, ss832855171, ss834308080, ss974488895, ss991238711, ss1067546352, ss1079726439, ss1351360111, ss1427451278, ss1577309793, ss1584090238, ss1631924635, ss1674918668, ss1691517934, ss1711374922, ss1752138432, ss1752138433, ss1807962132, ss1917889534, ss1934613467, ss1946379057, ss1946379058, ss1959561100, ss1959561101, ss1966652155, ss1967983008, ss2028085913, ss2095051013, ss2156462274, ss2628533552, ss2633162605, ss2700890477, ss2710802564, ss2740772045, ss2749153917, ss2928710531, ss2985023881, ss2985656803, ss3012345152, ss3021577119, ss3021577120, ss3350847961, ss3625660661, ss3627239552, ss3627239553, ss3631160158, ss3633079264, ss3633782808, ss3634580840, ss3634580841, ss3635472231, ss3636270494, ss3637223395, ss3638055412, ss3640288167, ss3640288168, ss3641052142, ss3641347192, ss3644632174, ss3644632175, ss3646461352, ss3651970394, ss3651970395, ss3653794993, ss3679599403, ss3740459666, ss3744123487, ss3744412683, ss3744881437, ss3744881438, ss3752430565, ss3772380268, ss3772380269, ss3787690053, ss3792724763, ss3797609040, ss3824857470, ss3825847375, ss3833965107, ss3840575953, ss3881694534, ss3930727350, ss3984057809, ss3984692911, ss3984692912, ss3985684989, ss3986621591, ss4017674763, ss5213634373, ss5315743870, ss5415833905, ss5511274150, ss5623962276, ss5624046010, ss5624346056, ss5656398061, ss5799922308, ss5800066966, ss5800188245, ss5841230778, ss5847438767, ss5848385814, ss5936557618, ss5947837561, ss5979443460, ss5980832354, ss5981284972	NC_000014.8:64882379:A:G	NC_000014.9:64415661:A:G	(self)
RCV000455974.4, RCV001516295.4, RCV001775796.2, 84501584, 453761969, 1162971, 31480428, 1016127, 100389802, 189287478, 7876077503, ss2202719431, ss3027868649, ss3650226669, ss3696854582, ss3725455319, ss3771794658, ss3817763382, ss3846065272, ss3975102427, ss4973741819, ss5236917752, ss5237226628, ss5237662678, ss5240819075, ss5296535447, ss5490547425, ss5596975649, ss5766552698, ss5814829738, ss5851071223, ss5901698329	NC_000014.9:64415661:A:G	NC_000014.9:64415661:A:G	(self)
ss10747980, ss14387249, ss16657476, ss17526847, ss21201766	NT_026437.10:44802420:A:G	NC_000014.9:64415661:A:G	(self)
ss76897079	NT_026437.11:45882132:A:G	NC_000014.9:64415661:A:G	(self)
ss2845017, ss2982424, ss3239445, ss24129796, ss28508935, ss28512362, ss48295777, ss48402353, ss66707580, ss67209854, ss67602842, ss69160025, ss70688106, ss71252707, ss74807897, ss75641004, ss79103443, ss80732204, ss83927343, ss96864920, ss103192445, ss121863149, ss137015005, ss153792044, ss155906227, ss159343206, ss159729419, ss170903098, ss173007009	NT_026437.12:45882379:A:G	NC_000014.9:64415661:A:G	(self)
37904744, ss3930727350	NC_000014.8:64882379:A:T	NC_000014.9:64415661:A:T	(self)

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

30 citations for rs1950902

PMID	Title	Author	Year	Journal
12384833	A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.	Brody LC et al.	2002	American journal of human genetics
19064578	No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.	Stevens VL et al.	2008	Cancer epidemiology, biomarkers & prevention
19376481	One-carbon metabolism and breast cancer: an epidemiological perspective.	Xu X et al.	2009	Journal of genetics and genomics = Yi chuan xue bao
19493349	118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.	Shaw GM et al.	2009	BMC medical genetics
19683694	Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.	Martinez CA et al.	2009	American journal of obstetrics and gynecology
19936946	Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.	Hazra A et al.	2010	Cancer causes & control
20570913	Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.	Kelemen LE et al.	2010	Cancer epidemiology, biomarkers & prevention
20737570	Genetic variants in one-carbon metabolism-related genes contribute to NSCLC prognosis in a Chinese population.	Jin G et al.	2010	Cancer
20840732	Shrunken methodology to genome-wide SNPs selection and construction of SNPs networks.	Liu Y et al.	2010	BMC systems biology
21146954	Genes and abdominal aortic aneurysm.	Hinterseher I et al.	2011	Annals of vascular surgery
21467728	Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.	Wakai K et al.	2011	Journal of epidemiology
21748308	Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.	Metayer C et al.	2011	Cancer causes & control
22103680	Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.	Wernimont SM et al.	2011	BMC medical genetics
22496743	Genetic variant of AMD1 is associated with obesity in urban Indian children.	Tabassum R et al.	2012	PloS one
23446900	One-carbon metabolism factors and leukocyte telomere length.	Liu JJ et al.	2013	The American journal of clinical nutrition
23940529	Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.	Lautner-Csorba O et al.	2013	PloS one
23946381	Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.	Ma X et al.	2014	Gut
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24048206	Neural tube defects, folic acid and methylation.	Imbard A et al.	2013	International journal of environmental research and public health
25039261	Association study of MTHFD1 coding polymorphisms R134K and R653Q with migraine susceptibility.	Sutherland HG et al.	2014	Headache
25344837	Relationships among folate, alcohol consumption, gene variants in one-carbon metabolism and p16INK4a methylation and expression in healthy breast tissues.	Llanos AA et al.	2015	Carcinogenesis
25524527	Association between MTHFD1 polymorphisms and neural tube defect susceptibility.	Meng J et al.	2015	Journal of the neurological sciences
30294719	Sex Differences in Genetic Associations With Longevity.	Zeng Y et al.	2018	JAMA network open
31818908	Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.	Montazeri Z et al.	2020	Gut
31955403	Genetic variants in the folate metabolic pathway genes predict cutaneous melanoma-specific survival.	Dai W et al.	2020	The British journal of dermatology
32203239	Association of genetic and epigenetic variants in one-carbon metabolism gene with folate treatment response in hyperhomocysteinaemia.	Li D et al.	2020	European journal of clinical nutrition
33195260	Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.	Martinelli M et al.	2020	Frontiers in cell and developmental biology
35100977	Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study.	Song X et al.	2022	BMC pregnancy and childbirth
35186819	Association of Maternal Dietary Habits and MTHFD1 Gene Polymorphisms With Ventricular Septal Defects in Offspring: A Case-Control Study.	Song X et al.	2021	Frontiers in pediatrics
35894196	[Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].	Chen Q et al.	2022	Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

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

rs1950902