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rs2993763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2993763(A;A)
Make rs2993763(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position80273838
GeneMAT1A
is asnp
is mentioned by
dbSNPrs2993763
dbSNP (classic)rs2993763
ClinGenrs2993763
ebirs2993763
HLIrs2993763
Exacrs2993763
Gnomadrs2993763
Varsomers2993763
LitVarrs2993763
Maprs2993763
PheGenIrs2993763
Biobankrs2993763
1000 genomesrs2993763
hgdprs2993763
ensemblrs2993763
geneviewrs2993763
scholarrs2993763
googlers2993763
pharmgkbrs2993763
gwascentralrs2993763
openSNPrs2993763
23andMers2993763
SNPshotrs2993763
SNPdbers2993763
MSV3drs2993763
GWAS Ctlgrs2993763
Max Magnitude0
? (A;A) (A;G) (G;G) 28


rs2993763 is a SNP in the MAT1A gene on chromosome 10.


ClinVar
Risk rs2993763(A;A)
Alt rs2993763(A;A)
Reference Rs2993763(G;G)
Significance Non-pathogenic
Disease not specified Hepatic methionine adenosyltransferase deficiency
Variation info
Gene MAT1A
CLNDBN not specified Hepatic methionine adenosyltransferase deficiency
Reversed 0
HGVS NC_000010.10:g.82033594G>A
CLNSRC
CLNACC RCV000247170.1, RCV000330172.1,