Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515346

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515346(-;-)
Make rs397515346(-;G)
Make rs397515346(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position120647888
GeneHGD
is asnp
is mentioned by
dbSNPrs397515346
ebirs397515346
HLIrs397515346
Exacrs397515346
Varsomers397515346
Maprs397515346
PheGenIrs397515346
hapmaprs397515346
1000 genomesrs397515346
hgdprs397515346
ensemblrs397515346
gopubmedrs397515346
geneviewrs397515346
scholarrs397515346
googlers397515346
pharmgkbrs397515346
gwascentralrs397515346
openSNPrs397515346
23andMers397515346
23andMe allrs397515346
SNP Nexus

SNPshotrs397515346
SNPdbers397515346
MSV3drs397515346
GWAS Ctlgrs397515346
Max Magnitude0
ClinVar
Risk rs397515346(G;G)
Alt rs397515346(G;G)
Reference rs397515346(;)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120366736dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003319.5,