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rs397515516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515516(-;-)
Make rs397515516(-;C)
Make rs397515516(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position120633223
GeneHGD
is asnp
is mentioned by
dbSNPrs397515516
ebirs397515516
HLIrs397515516
Exacrs397515516
Varsomers397515516
Maprs397515516
PheGenIrs397515516
hapmaprs397515516
1000 genomesrs397515516
hgdprs397515516
ensemblrs397515516
gopubmedrs397515516
geneviewrs397515516
scholarrs397515516
googlers397515516
pharmgkbrs397515516
gwascentralrs397515516
openSNPrs397515516
23andMers397515516
23andMe allrs397515516
SNP Nexus

SNPshotrs397515516
SNPdbers397515516
MSV3drs397515516
GWAS Ctlgrs397515516
Max Magnitude0
ClinVar
Risk rs397515516(C;C)
Alt rs397515516(C;C)
Reference rs397515516(;)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120352071dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000055777.1,