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rs118204045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204045(A;A)
Make rs118204045(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position149575775
GeneMMADHC
is asnp
is mentioned by
dbSNPrs118204045
ebirs118204045
HLIrs118204045
Exacrs118204045
Varsomers118204045
Maprs118204045
PheGenIrs118204045
hapmaprs118204045
1000 genomesrs118204045
hgdprs118204045
ensemblrs118204045
gopubmedrs118204045
geneviewrs118204045
scholarrs118204045
googlers118204045
pharmgkbrs118204045
gwascentralrs118204045
openSNPrs118204045
23andMers118204045
23andMe allrs118204045
SNP Nexus

SNPshotrs118204045
SNPdbers118204045
MSV3drs118204045
GWAS Ctlgrs118204045
Max Magnitude0
OMIM611935
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204045(A;A)
Alt rs118204045(A;A)
Reference rs118204045(C;C)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene MMADHC
CLNDBN Homocystinuria, cblD type, variant 1
Reversed 1
HGVS NC_000002.11:g.150432289G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000798.3,