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rs118204047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204047(C;T)
Make rs118204047(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position149579643
GeneMMADHC
is asnp
is mentioned by
dbSNPrs118204047
ebirs118204047
HLIrs118204047
Exacrs118204047
Varsomers118204047
Maprs118204047
PheGenIrs118204047
hapmaprs118204047
1000 genomesrs118204047
hgdprs118204047
ensemblrs118204047
gopubmedrs118204047
geneviewrs118204047
scholarrs118204047
googlers118204047
pharmgkbrs118204047
gwascentralrs118204047
openSNPrs118204047
23andMers118204047
23andMe allrs118204047
SNP Nexus

SNPshotrs118204047
SNPdbers118204047
MSV3drs118204047
GWAS Ctlgrs118204047
Max Magnitude0
OMIM611935
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118204047(T;T)
Alt rs118204047(T;T)
Reference rs118204047(C;C)
Significance Pathogenic
Disease Methylmalonic aciduria Methylmalonic acidemia with homocystinuria cblD
Variation info
Gene MMADHC
CLNDBN Methylmalonic aciduria, cblD type, variant 2 Methylmalonic acidemia with homocystinuria cblD
Reversed 1
HGVS NC_000002.11:g.150436157G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000801.4, RCV000203332.1,