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rs120074170

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074170(G;G)
Make rs120074170(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position120638562
GeneHGD
is asnp
is mentioned by
dbSNPrs120074170
ebirs120074170
HLIrs120074170
Exacrs120074170
Varsomers120074170
Maprs120074170
PheGenIrs120074170
hapmaprs120074170
1000 genomesrs120074170
hgdprs120074170
ensemblrs120074170
gopubmedrs120074170
geneviewrs120074170
scholarrs120074170
googlers120074170
pharmgkbrs120074170
gwascentralrs120074170
openSNPrs120074170
23andMers120074170
23andMe allrs120074170
SNP Nexus

SNPshotrs120074170
SNPdbers120074170
MSV3drs120074170
GWAS Ctlgrs120074170
Max Magnitude0
OMIM607474
Desc
Variant0002
Relatedalso
ClinVar
Risk rs120074170(G;G)
Alt rs120074170(G;G)
Reference rs120074170(T;T)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120357409A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003316.4,