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

rs397515518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515518(A;A)
Make rs397515518(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position120652591
GeneHGD
is asnp
is mentioned by
dbSNPrs397515518
ebirs397515518
HLIrs397515518
Exacrs397515518
Varsomers397515518
Maprs397515518
PheGenIrs397515518
hapmaprs397515518
1000 genomesrs397515518
hgdprs397515518
ensemblrs397515518
gopubmedrs397515518
geneviewrs397515518
scholarrs397515518
googlers397515518
pharmgkbrs397515518
gwascentralrs397515518
openSNPrs397515518
23andMers397515518
23andMe allrs397515518
SNP Nexus

SNPshotrs397515518
SNPdbers397515518
MSV3drs397515518
GWAS Ctlgrs397515518
Max Magnitude0
ClinVar
Risk rs397515518(A,T;A,T)
Alt rs397515518(A,T;A,T)
Reference rs397515518(G;G)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120371438C>A; NC_000003.11:g.120371438C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000169542.1, RCV000055781.1,