rs118204001

Orientation

minus

Stabilized

minus

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

Make rs118204001(G;G)

Make rs118204001(G;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

80274639

Gene

MAT1A

is a	snp
is	mentioned by
dbSNP	rs118204001
dbSNP (classic)	rs118204001
ClinGen	rs118204001
ebi	rs118204001
HLI	rs118204001
Exac	rs118204001
Gnomad	rs118204001
Varsome	rs118204001
LitVar	rs118204001
Map	rs118204001
PheGenI	rs118204001
Biobank	rs118204001
1000 genomes	rs118204001
hgdp	rs118204001
ensembl	rs118204001
geneview	rs118204001
scholar	rs118204001
google	rs118204001
pharmgkb	rs118204001
gwascentral	rs118204001
openSNP	rs118204001
23andMe	rs118204001
SNPshot	rs118204001
SNPdbe	rs118204001
MSV3d	rs118204001
GWAS Ctlg	rs118204001

Max Magnitude

0

OMIM	610550
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118204001(G;G)
Alt	rs118204001(G;G)
Reference	Rs118204001(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.82034395A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001261.3,