rs200137991

Orientation

plus

Stabilized

plus

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

Make rs200137991(A;A)

Make rs200137991(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

11794443

Gene

MTHFR

is a	snp
is	mentioned by
dbSNP	rs200137991
dbSNP (classic)	rs200137991
ClinGen	rs200137991
ebi	rs200137991
HLI	rs200137991
Exac	rs200137991
Gnomad	rs200137991
Varsome	rs200137991
LitVar	rs200137991
Map	rs200137991
PheGenI	rs200137991
Biobank	rs200137991
1000 genomes	rs200137991
hgdp	rs200137991
ensembl	rs200137991
geneview	rs200137991
scholar	rs200137991
google	rs200137991
pharmgkb	rs200137991
gwascentral	rs200137991
openSNP	rs200137991
23andMe	rs200137991
SNPshot	rs200137991
SNPdbe	rs200137991
MSV3d	rs200137991
GWAS Ctlg	rs200137991

Max Magnitude

0

ClinVar
Risk	rs200137991(A;A) rs200137991(G;G)
Alt	rs200137991(A;A) rs200137991(G;G)
Reference	Rs200137991(C;C)
Significance	Pathogenic
Disease	Homocysteinemia due to MTHFR deficiency
Variation	info
Gene	MTHFR
CLNDBN	Homocysteinemia due to MTHFR deficiency
Reversed	0
HGVS	NC_000001.10:g.11854500C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000167612.1,