rs200100285

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs200100285(C;C)

Make rs200100285(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

11796313

Gene

MTHFR

is a	snp
is	mentioned by
dbSNP	rs200100285
dbSNP (classic)	rs200100285
ClinGen	rs200100285
ebi	rs200100285
HLI	rs200100285
Exac	rs200100285
Gnomad	rs200100285
Varsome	rs200100285
LitVar	rs200100285
Map	rs200100285
PheGenI	rs200100285
Biobank	rs200100285
1000 genomes	rs200100285
hgdp	rs200100285
ensembl	rs200100285
geneview	rs200100285
scholar	rs200100285
google	rs200100285
pharmgkb	rs200100285
gwascentral	rs200100285
openSNP	rs200100285
23andMe	rs200100285
SNPshot	rs200100285
SNPdbe	rs200100285
MSV3d	rs200100285
GWAS Ctlg	rs200100285

Max Magnitude

0

ClinVar
Risk	rs200100285(C;C) rs200100285(G;G)
Alt	rs200100285(C;C) rs200100285(G;G)
Reference	Rs200100285(T;T)
Significance	Pathogenic
Disease	Neural tube defects Homocysteinemia due to MTHFR deficiency
Variation	info
Gene	MTHFR
CLNDBN	Neural tube defects, folate-sensitive Homocysteinemia due to MTHFR deficiency
Reversed	0
HGVS	NC_000001.10:g.11856370T>C; NC_000001.10:g.11856370T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000361645.1, RCV000167599.1,