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rs200596762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8.8 Methylmalonic aciduria (predicted)
(A;G) 3 Carrier for a methylmalonic aciduria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position49457762
GeneMUT
is asnp
is mentioned by
dbSNPrs200596762
dbSNP (classic)rs200596762
ClinGenrs200596762
ebirs200596762
HLIrs200596762
Exacrs200596762
Gnomadrs200596762
Varsomers200596762
LitVarrs200596762
Maprs200596762
PheGenIrs200596762
Biobankrs200596762
1000 genomesrs200596762
hgdprs200596762
ensemblrs200596762
geneviewrs200596762
scholarrs200596762
googlers200596762
pharmgkbrs200596762
gwascentralrs200596762
openSNPrs200596762
23andMers200596762
SNPshotrs200596762
SNPdbers200596762
MSV3drs200596762
GWAS Ctlgrs200596762
Max Magnitude8.8
ClinVar
Risk Rs200596762(A;A)
Alt Rs200596762(A;A)
Reference Rs200596762(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene MUT
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.49425475G>A
CLNSRC
CLNACC RCV000186056.2,