rs121434294

Orientation

minus

Stabilized

minus

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

Make rs121434294(C;T)

Make rs121434294(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11800251

Gene

MTHFR

is a	snp
is	mentioned by
dbSNP	rs121434294
dbSNP (classic)	rs121434294
ClinGen	rs121434294
ebi	rs121434294
HLI	rs121434294
Exac	rs121434294
Gnomad	rs121434294
Varsome	rs121434294
LitVar	rs121434294
Map	rs121434294
PheGenI	rs121434294
Biobank	rs121434294
1000 genomes	rs121434294
hgdp	rs121434294
ensembl	rs121434294
geneview	rs121434294
scholar	rs121434294
google	rs121434294
pharmgkb	rs121434294
gwascentral	rs121434294
openSNP	rs121434294
23andMe	rs121434294
SNPshot	rs121434294
SNPdbe	rs121434294
MSV3d	rs121434294
GWAS Ctlg	rs121434294

Max Magnitude

0

OMIM	607093
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434294(T;T)
Alt	rs121434294(T;T)
Reference	Rs121434294(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.11860308G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003695.2,