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rs1057516921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516921(-;-)
Make rs1057516921(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120650799
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516921
dbSNP (old)rs1057516921
ClinGenrs1057516921
ebirs1057516921
HLIrs1057516921
Exacrs1057516921
Gnomadrs1057516921
Varsomers1057516921
Maprs1057516921
PheGenIrs1057516921
Biobankrs1057516921
1000 genomesrs1057516921
hgdprs1057516921
ensemblrs1057516921
gopubmedrs1057516921
geneviewrs1057516921
scholarrs1057516921
googlers1057516921
pharmgkbrs1057516921
gwascentralrs1057516921
openSNPrs1057516921
23andMers1057516921
23andMe allrs1057516921
SNPshotrs1057516921
SNPdbers1057516921
MSV3drs1057516921
GWAS Ctlgrs1057516921
Max Magnitude0
ClinVar
Risk rs1057516921(-;-)
Alt rs1057516921(-;-)
Reference Rs1057516921(C;C)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120369646delG
CLNSRC
CLNACC RCV000411150.1,