rs118204004

Orientation

minus

Stabilized

minus

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

Make rs118204004(C;C)

Make rs118204004(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

80275054

Gene

MAT1A

is a	snp
is	mentioned by
dbSNP	rs118204004
dbSNP (classic)	rs118204004
ClinGen	rs118204004
ebi	rs118204004
HLI	rs118204004
Exac	rs118204004
Gnomad	rs118204004
Varsome	rs118204004
LitVar	rs118204004
Map	rs118204004
PheGenI	rs118204004
Biobank	rs118204004
1000 genomes	rs118204004
hgdp	rs118204004
ensembl	rs118204004
geneview	rs118204004
scholar	rs118204004
google	rs118204004
pharmgkb	rs118204004
gwascentral	rs118204004
openSNP	rs118204004
23andMe	rs118204004
SNPshot	rs118204004
SNPdbe	rs118204004
MSV3d	rs118204004
GWAS Ctlg	rs118204004

Max Magnitude

0

OMIM	610550
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118204004(C;C)
Alt	rs118204004(C;C)
Reference	Rs118204004(T;T)
Significance	Pathogenic
Disease	Hepatic methionine adenosyltransferase deficiency
Variation	info
Gene	MAT1A
CLNDBN	Hepatic methionine adenosyltransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.82034810A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001264.3,