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rs397515347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515347(A;A)
Make rs397515347(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position120675864
GeneHGD
is asnp
is mentioned by
dbSNPrs397515347
ebirs397515347
HLIrs397515347
Exacrs397515347
Varsomers397515347
Maprs397515347
PheGenIrs397515347
hapmaprs397515347
1000 genomesrs397515347
hgdprs397515347
ensemblrs397515347
gopubmedrs397515347
geneviewrs397515347
scholarrs397515347
googlers397515347
pharmgkbrs397515347
gwascentralrs397515347
openSNPrs397515347
23andMers397515347
23andMe allrs397515347
SNP Nexus

SNPshotrs397515347
SNPdbers397515347
MSV3drs397515347
GWAS Ctlgrs397515347
Max Magnitude0
ClinVar
Risk rs397515347(A;A)
Alt rs397515347(A;A)
Reference rs397515347(G;G)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120394711C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003320.4,