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rs369517993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs369517993(G;T)
Make rs369517993(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position120674937
GeneHGD
is asnp
is mentioned by
dbSNPrs369517993
ebirs369517993
HLIrs369517993
Exacrs369517993
Varsomers369517993
Maprs369517993
PheGenIrs369517993
hapmaprs369517993
1000 genomesrs369517993
hgdprs369517993
ensemblrs369517993
gopubmedrs369517993
geneviewrs369517993
scholarrs369517993
googlers369517993
pharmgkbrs369517993
gwascentralrs369517993
openSNPrs369517993
23andMers369517993
23andMe allrs369517993
SNP Nexus

SNPshotrs369517993
SNPdbers369517993
MSV3drs369517993
GWAS Ctlgrs369517993
Max Magnitude0
ClinVar
Risk rs369517993(A,T;A,T)
Alt rs369517993(A,T;A,T)
Reference rs369517993(G;G)
Significance Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 0
HGVS NC_000003.11:g.120393784G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055778.1,