rs72558181

Orientation

minus

Stabilized

minus

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

Make rs72558181(A;A)

Make rs72558181(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

80275177

Gene

MAT1A

is a	snp
is	mentioned by
dbSNP	rs72558181
dbSNP (classic)	rs72558181
ClinGen	rs72558181
ebi	rs72558181
HLI	rs72558181
Exac	rs72558181
Gnomad	rs72558181
Varsome	rs72558181
LitVar	rs72558181
Map	rs72558181
PheGenI	rs72558181
Biobank	rs72558181
1000 genomes	rs72558181
hgdp	rs72558181
ensembl	rs72558181
geneview	rs72558181
scholar	rs72558181
google	rs72558181
pharmgkb	rs72558181
gwascentral	rs72558181
openSNP	rs72558181
23andMe	rs72558181
SNPshot	rs72558181
SNPdbe	rs72558181
MSV3d	rs72558181
GWAS Ctlg	rs72558181

Max Magnitude

0

OMIM	610550
Desc
Variant	0007
Related	also

ClinVar
Risk	rs72558181(A;A)
Alt	rs72558181(A;A)
Reference	Rs72558181(G;G)
Significance	Pathogenic
Disease	Hepatic methionine adenosyltransferase deficiency not provided
Variation	info
Gene	MAT1A
CLNDBN	Hepatic methionine adenosyltransferase deficiency not provided
Reversed	1
HGVS	NC_000010.10:g.82034933C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001267.3, RCV000413727.1,