rs118204005

Orientation

minus

Stabilized

minus

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

Make rs118204005(C;T)

Make rs118204005(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

80275178

Gene

MAT1A

is a	snp
is	mentioned by
dbSNP	rs118204005
dbSNP (classic)	rs118204005
ClinGen	rs118204005
ebi	rs118204005
HLI	rs118204005
Exac	rs118204005
Gnomad	rs118204005
Varsome	rs118204005
LitVar	rs118204005
Map	rs118204005
PheGenI	rs118204005
Biobank	rs118204005
1000 genomes	rs118204005
hgdp	rs118204005
ensembl	rs118204005
geneview	rs118204005
scholar	rs118204005
google	rs118204005
pharmgkb	rs118204005
gwascentral	rs118204005
openSNP	rs118204005
23andMe	rs118204005
SNPshot	rs118204005
SNPdbe	rs118204005
MSV3d	rs118204005
GWAS Ctlg	rs118204005

Max Magnitude

0

OMIM	610550
Desc
Variant	0009
Related	also

ClinVar
Risk	rs118204005(T;T)
Alt	rs118204005(T;T)
Reference	Rs118204005(C;C)
Significance	Pathogenic
Disease	Hepatic methionine adenosyltransferase deficiency
Variation	info
Gene	MAT1A
CLNDBN	Hepatic methionine adenosyltransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.82034934G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001269.3,