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rs120074174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074174(A;A)
Make rs120074174(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position120641660
GeneHGD
is asnp
is mentioned by
dbSNPrs120074174
ebirs120074174
HLIrs120074174
Exacrs120074174
Varsomers120074174
Maprs120074174
PheGenIrs120074174
hapmaprs120074174
1000 genomesrs120074174
hgdprs120074174
ensemblrs120074174
gopubmedrs120074174
geneviewrs120074174
scholarrs120074174
googlers120074174
pharmgkbrs120074174
gwascentralrs120074174
openSNPrs120074174
23andMers120074174
23andMe allrs120074174
SNP Nexus

SNPshotrs120074174
SNPdbers120074174
MSV3drs120074174
GWAS Ctlgrs120074174
Max Magnitude0
OMIM607474
Desc
Variant0011
Relatedalso
ClinVar
Risk rs120074174(A;A)
Alt rs120074174(A;A)
Reference rs120074174(G;G)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120360507C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003325.4,