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rs1057517089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517089(-;-)
Make rs1057517089(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120638505
GeneHGD
is asnp
is mentioned by
dbSNPrs1057517089
dbSNP (classic)rs1057517089
ClinGenrs1057517089
ebirs1057517089
HLIrs1057517089
Exacrs1057517089
Gnomadrs1057517089
Varsomers1057517089
LitVarrs1057517089
Maprs1057517089
PheGenIrs1057517089
Biobankrs1057517089
1000 genomesrs1057517089
hgdprs1057517089
ensemblrs1057517089
geneviewrs1057517089
scholarrs1057517089
googlers1057517089
pharmgkbrs1057517089
gwascentralrs1057517089
openSNPrs1057517089
23andMers1057517089
SNPshotrs1057517089
SNPdbers1057517089
MSV3drs1057517089
GWAS Ctlgrs1057517089
Max Magnitude0
ClinVar
Risk rs1057517089(-;-)
Alt rs1057517089(-;-)
Reference Rs1057517089(C;C)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120357352delG
CLNSRC
CLNACC RCV000410964.1,