rs118204003

Orientation

minus

Stabilized

minus

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

Make rs118204003(C;T)

Make rs118204003(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

80274535

Gene

MAT1A

is a	snp
is	mentioned by
dbSNP	rs118204003
dbSNP (classic)	rs118204003
ClinGen	rs118204003
ebi	rs118204003
HLI	rs118204003
Exac	rs118204003
Gnomad	rs118204003
Varsome	rs118204003
LitVar	rs118204003
Map	rs118204003
PheGenI	rs118204003
Biobank	rs118204003
1000 genomes	rs118204003
hgdp	rs118204003
ensembl	rs118204003
geneview	rs118204003
scholar	rs118204003
google	rs118204003
pharmgkb	rs118204003
gwascentral	rs118204003
openSNP	rs118204003
23andMe	rs118204003
SNPshot	rs118204003
SNPdbe	rs118204003
MSV3d	rs118204003
GWAS Ctlg	rs118204003

Max Magnitude

0

OMIM	610550
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118204003(T;T)
Alt	rs118204003(T;T)
Reference	Rs118204003(C;C)
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.82034291G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001263.4, RCV000413402.1,