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rs120074172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074172(A;G)
Make rs120074172(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position120633223
GeneHGD
is asnp
is mentioned by
dbSNPrs120074172
ebirs120074172
HLIrs120074172
Exacrs120074172
Varsomers120074172
Maprs120074172
PheGenIrs120074172
hapmaprs120074172
1000 genomesrs120074172
hgdprs120074172
ensemblrs120074172
gopubmedrs120074172
geneviewrs120074172
scholarrs120074172
googlers120074172
pharmgkbrs120074172
gwascentralrs120074172
openSNPrs120074172
23andMers120074172
23andMe allrs120074172
SNP Nexus

SNPshotrs120074172
SNPdbers120074172
MSV3drs120074172
GWAS Ctlgrs120074172
Max Magnitude0
OMIM607474
Desc
Variant0008
Relatedalso
ClinVar
Risk rs120074172(G;G)
Alt rs120074172(G;G)
Reference rs120074172(A;A)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120352070T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003322.4,