rs118204002

Orientation

minus

Stabilized

minus

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

Make rs118204002(A;A)

Make rs118204002(A;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

80285517

Gene

MAT1A

is a	snp
is	mentioned by
dbSNP	rs118204002
dbSNP (classic)	rs118204002
ClinGen	rs118204002
ebi	rs118204002
HLI	rs118204002
Exac	rs118204002
Gnomad	rs118204002
Varsome	rs118204002
LitVar	rs118204002
Map	rs118204002
PheGenI	rs118204002
Biobank	rs118204002
1000 genomes	rs118204002
hgdp	rs118204002
ensembl	rs118204002
geneview	rs118204002
scholar	rs118204002
google	rs118204002
pharmgkb	rs118204002
gwascentral	rs118204002
openSNP	rs118204002
23andMe	rs118204002
SNPshot	rs118204002
SNPdbe	rs118204002
MSV3d	rs118204002
GWAS Ctlg	rs118204002

Max Magnitude

0

OMIM	610550
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118204002(A;A) rs118204002(T;T)
Alt	rs118204002(A;A) rs118204002(T;T)
Reference	Rs118204002(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.82045273G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001262.3,