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rs118204044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204044(C;C)
Make rs118204044(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position149570089
GeneMMADHC
is asnp
is mentioned by
dbSNPrs118204044
ebirs118204044
HLIrs118204044
Exacrs118204044
Varsomers118204044
Maprs118204044
PheGenIrs118204044
hapmaprs118204044
1000 genomesrs118204044
hgdprs118204044
ensemblrs118204044
gopubmedrs118204044
geneviewrs118204044
scholarrs118204044
googlers118204044
pharmgkbrs118204044
gwascentralrs118204044
openSNPrs118204044
23andMers118204044
23andMe allrs118204044
SNP Nexus

SNPshotrs118204044
SNPdbers118204044
MSV3drs118204044
GWAS Ctlgrs118204044
Max Magnitude0
OMIM611935
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204044(C;C)
Alt rs118204044(C;C)
Reference rs118204044(T;T)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene MMADHC
CLNDBN Homocystinuria, cblD type, variant 1
Reversed 1
HGVS NC_000002.11:g.150426603A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000797.3,