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rs118204046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118204046(A;G)
Make rs118204046(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position149570119
GeneMMADHC
is asnp
is mentioned by
dbSNPrs118204046
ebirs118204046
HLIrs118204046
Exacrs118204046
Varsomers118204046
Maprs118204046
PheGenIrs118204046
hapmaprs118204046
1000 genomesrs118204046
hgdprs118204046
ensemblrs118204046
gopubmedrs118204046
geneviewrs118204046
scholarrs118204046
googlers118204046
pharmgkbrs118204046
gwascentralrs118204046
openSNPrs118204046
23andMers118204046
23andMe allrs118204046
SNP Nexus

SNPshotrs118204046
SNPdbers118204046
MSV3drs118204046
GWAS Ctlgrs118204046
Max Magnitude0
OMIM611935
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204046(G;G)
Alt rs118204046(G;G)
Reference rs118204046(A;A)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene MMADHC
CLNDBN Homocystinuria, cblD type, variant 1
Reversed 1
HGVS NC_000002.11:g.150426633T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000799.5,