rs121434296

Orientation

minus

Stabilized

minus

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

Make rs121434296(C;T)

Make rs121434296(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11794766

Gene

MTHFR

is a	snp
is	mentioned by
dbSNP	rs121434296
dbSNP (classic)	rs121434296
ClinGen	rs121434296
ebi	rs121434296
HLI	rs121434296
Exac	rs121434296
Gnomad	rs121434296
Varsome	rs121434296
LitVar	rs121434296
Map	rs121434296
PheGenI	rs121434296
Biobank	rs121434296
1000 genomes	rs121434296
hgdp	rs121434296
ensembl	rs121434296
geneview	rs121434296
scholar	rs121434296
google	rs121434296
pharmgkb	rs121434296
gwascentral	rs121434296
openSNP	rs121434296
23andMe	rs121434296
SNPshot	rs121434296
SNPdbe	rs121434296
MSV3d	rs121434296
GWAS Ctlg	rs121434296

Max Magnitude

0

OMIM	607093
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121434296(T;T)
Alt	rs121434296(T;T)
Reference	Rs121434296(C;C)
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.11854823G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003706.4,