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rs483352778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8.8 Methylmalonic aciduria (predicted)
(A;G) 3 Carrier for a methylmalonic aciduria mutation
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position49459144
GeneMUT
is asnp
is mentioned by
dbSNPrs483352778
dbSNP (classic)rs483352778
ClinGenrs483352778
ebirs483352778
HLIrs483352778
Exacrs483352778
Gnomadrs483352778
Varsomers483352778
LitVarrs483352778
Maprs483352778
PheGenIrs483352778
Biobankrs483352778
1000 genomesrs483352778
hgdprs483352778
ensemblrs483352778
geneviewrs483352778
scholarrs483352778
googlers483352778
pharmgkbrs483352778
gwascentralrs483352778
openSNPrs483352778
23andMers483352778
SNPshotrs483352778
SNPdbers483352778
MSV3drs483352778
GWAS Ctlgrs483352778
Max Magnitude8.8

aka c.323G>A, p.Arg108His, R108H