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rs562853291

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs562853291(C;T)
Make rs562853291(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position120644419
GeneHGD
is asnp
is mentioned by
dbSNPrs562853291
ebirs562853291
HLIrs562853291
Exacrs562853291
Varsomers562853291
Maprs562853291
PheGenIrs562853291
hapmaprs562853291
1000 genomesrs562853291
hgdprs562853291
ensemblrs562853291
gopubmedrs562853291
geneviewrs562853291
scholarrs562853291
googlers562853291
pharmgkbrs562853291
gwascentralrs562853291
openSNPrs562853291
23andMers562853291
23andMe allrs562853291
SNP Nexus

SNPshotrs562853291
SNPdbers562853291
MSV3drs562853291
GWAS Ctlgrs562853291
Max Magnitude0
ClinVar
Risk rs562853291(G,T;G,T)
Alt rs562853291(G,T;G,T)
Reference rs562853291(C;C)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 0
HGVS NC_000003.11:g.120363266C>T
CLNSRC
CLNACC RCV000169601.1,