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rs1057516467

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516467(A;A)
Make rs1057516467(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120670530
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516467
dbSNP (old)rs1057516467
ClinGenrs1057516467
ebirs1057516467
HLIrs1057516467
Exacrs1057516467
Gnomadrs1057516467
Varsomers1057516467
Maprs1057516467
PheGenIrs1057516467
Biobankrs1057516467
1000 genomesrs1057516467
hgdprs1057516467
ensemblrs1057516467
gopubmedrs1057516467
geneviewrs1057516467
scholarrs1057516467
googlers1057516467
pharmgkbrs1057516467
gwascentralrs1057516467
openSNPrs1057516467
23andMers1057516467
23andMe allrs1057516467
SNPshotrs1057516467
SNPdbers1057516467
MSV3drs1057516467
GWAS Ctlgrs1057516467
Max Magnitude0
ClinVar
Risk rs1057516467(A;A)
Alt rs1057516467(A;A)
Reference Rs1057516467(G;G)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120389377C>T
CLNSRC
CLNACC RCV000409762.1,