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rs120074173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074173(A;G)
Make rs120074173(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position120633233
GeneHGD
is asnp
is mentioned by
dbSNPrs120074173
ebirs120074173
HLIrs120074173
Exacrs120074173
Varsomers120074173
Maprs120074173
PheGenIrs120074173
hapmaprs120074173
1000 genomesrs120074173
hgdprs120074173
ensemblrs120074173
gopubmedrs120074173
geneviewrs120074173
scholarrs120074173
googlers120074173
pharmgkbrs120074173
gwascentralrs120074173
openSNPrs120074173
23andMers120074173
23andMe allrs120074173
SNP Nexus

SNPshotrs120074173
SNPdbers120074173
MSV3drs120074173
GWAS Ctlgrs120074173
GMAF0.0009183
Max Magnitude0
OMIM607474
Desc
Variant0009
Relatedalso
ClinVar
Risk rs120074173(G;G)
Alt rs120074173(G;G)
Reference rs120074173(A;A)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120352080T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003323.6,