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rs120074171

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074171(G;T)
Make rs120074171(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position120638471
GeneHGD
is asnp
is mentioned by
dbSNPrs120074171
ebirs120074171
HLIrs120074171
Exacrs120074171
Varsomers120074171
Maprs120074171
PheGenIrs120074171
hapmaprs120074171
1000 genomesrs120074171
hgdprs120074171
ensemblrs120074171
gopubmedrs120074171
geneviewrs120074171
scholarrs120074171
googlers120074171
pharmgkbrs120074171
gwascentralrs120074171
openSNPrs120074171
23andMers120074171
23andMe allrs120074171
SNP Nexus

SNPshotrs120074171
SNPdbers120074171
MSV3drs120074171
GWAS Ctlgrs120074171
GMAF0.0
Max Magnitude0
OMIM607474
Desc
Variant0007
Relatedalso
ClinVar
Risk rs120074171(T;T)
Alt rs120074171(T;T)
Reference rs120074171(G;G)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120357318C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003317.4,