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rs1057516911

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516911(-;-)
Make rs1057516911(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120650862
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516911
dbSNP (old)rs1057516911
ClinGenrs1057516911
ebirs1057516911
HLIrs1057516911
Exacrs1057516911
Gnomadrs1057516911
Varsomers1057516911
Maprs1057516911
PheGenIrs1057516911
Biobankrs1057516911
1000 genomesrs1057516911
hgdprs1057516911
ensemblrs1057516911
gopubmedrs1057516911
geneviewrs1057516911
scholarrs1057516911
googlers1057516911
pharmgkbrs1057516911
gwascentralrs1057516911
openSNPrs1057516911
23andMers1057516911
23andMe allrs1057516911
SNPshotrs1057516911
SNPdbers1057516911
MSV3drs1057516911
GWAS Ctlgrs1057516911
Max Magnitude0
ClinVar
Risk rs1057516911(-;-)
Alt rs1057516911(-;-)
Reference Rs1057516911(C;C)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120369709delG
CLNSRC
CLNACC RCV000411315.1,