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rs397515517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515517(-;-)
Make rs397515517(-;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position120674903
GeneHGD
is asnp
is mentioned by
dbSNPrs397515517
ebirs397515517
HLIrs397515517
Exacrs397515517
Varsomers397515517
Maprs397515517
PheGenIrs397515517
hapmaprs397515517
1000 genomesrs397515517
hgdprs397515517
ensemblrs397515517
gopubmedrs397515517
geneviewrs397515517
scholarrs397515517
googlers397515517
pharmgkbrs397515517
gwascentralrs397515517
openSNPrs397515517
23andMers397515517
23andMe allrs397515517
SNP Nexus

SNPshotrs397515517
SNPdbers397515517
MSV3drs397515517
GWAS Ctlgrs397515517
Max Magnitude0
ClinVar
Risk rs397515517(;)
Alt rs397515517(;)
Reference rs397515517(A;A)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120393749delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003321.5,