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rs1057516847

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516847(-;G)
Make rs1057516847(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120633270
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516847
dbSNP (old)rs1057516847
ClinGenrs1057516847
ebirs1057516847
HLIrs1057516847
Exacrs1057516847
Gnomadrs1057516847
Varsomers1057516847
Maprs1057516847
PheGenIrs1057516847
Biobankrs1057516847
1000 genomesrs1057516847
hgdprs1057516847
ensemblrs1057516847
gopubmedrs1057516847
geneviewrs1057516847
scholarrs1057516847
googlers1057516847
pharmgkbrs1057516847
gwascentralrs1057516847
openSNPrs1057516847
23andMers1057516847
23andMe allrs1057516847
SNPshotrs1057516847
SNPdbers1057516847
MSV3drs1057516847
GWAS Ctlgrs1057516847
Max Magnitude0
ClinVar
Risk rs1057516847(G;G)
Alt rs1057516847(G;G)
Reference Rs1057516847(-;-)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120352118dupC
CLNSRC
CLNACC RCV000411251.1,