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rs118204048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204048(C;T)
Make rs118204048(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position149570117
GeneMMADHC
is asnp
is mentioned by
dbSNPrs118204048
ClinGenrs118204048
ebirs118204048
HLIrs118204048
Exacrs118204048
Varsomers118204048
Maprs118204048
PheGenIrs118204048
hapmaprs118204048
1000 genomesrs118204048
hgdprs118204048
ensemblrs118204048
gopubmedrs118204048
geneviewrs118204048
scholarrs118204048
googlers118204048
pharmgkbrs118204048
gwascentralrs118204048
openSNPrs118204048
23andMers118204048
23andMe allrs118204048
SNP Nexus

SNPshotrs118204048
SNPdbers118204048
MSV3drs118204048
GWAS Ctlgrs118204048
Max Magnitude0
OMIM611935
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118204048(T;T)
Alt rs118204048(T;T)
Reference Rs118204048(C;C)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria cblD
Variation info
Gene MMADHC
CLNDBN Methylmalonic acidemia with homocystinuria cblD
Reversed 1
HGVS NC_000002.11:g.150426631G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000803.3,