rs121434295

Orientation

minus

Stabilized

minus

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

Make rs121434295(A;A)

Make rs121434295(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11801166

Gene

MTHFR

is a	snp
is	mentioned by
dbSNP	rs121434295
dbSNP (classic)	rs121434295
ClinGen	rs121434295
ebi	rs121434295
HLI	rs121434295
Exac	rs121434295
Gnomad	rs121434295
Varsome	rs121434295
LitVar	rs121434295
Map	rs121434295
PheGenI	rs121434295
Biobank	rs121434295
1000 genomes	rs121434295
hgdp	rs121434295
ensembl	rs121434295
geneview	rs121434295
scholar	rs121434295
google	rs121434295
pharmgkb	rs121434295
gwascentral	rs121434295
openSNP	rs121434295
23andMe	rs121434295
SNPshot	rs121434295
SNPdbe	rs121434295
MSV3d	rs121434295
GWAS Ctlg	rs121434295

Max Magnitude

0

OMIM	607093
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434295(A;A)
Alt	rs121434295(A;A)
Reference	Rs121434295(G;G)
Significance	Pathogenic
Disease	Homocystinuria due to MTHFR deficiency
Variation	info
Gene	MTHFR
CLNDBN	Homocystinuria due to MTHFR deficiency
Reversed	1
HGVS	NC_000001.10:g.11861223C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003696.2,