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rs1057516352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516352(-;-)
Make rs1057516352(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120650818
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516352
dbSNP (old)rs1057516352
ClinGenrs1057516352
ebirs1057516352
HLIrs1057516352
Exacrs1057516352
Gnomadrs1057516352
Varsomers1057516352
Maprs1057516352
PheGenIrs1057516352
Biobankrs1057516352
1000 genomesrs1057516352
hgdprs1057516352
ensemblrs1057516352
gopubmedrs1057516352
geneviewrs1057516352
scholarrs1057516352
googlers1057516352
pharmgkbrs1057516352
gwascentralrs1057516352
openSNPrs1057516352
23andMers1057516352
23andMe allrs1057516352
SNPshotrs1057516352
SNPdbers1057516352
MSV3drs1057516352
GWAS Ctlgrs1057516352
Max Magnitude0
ClinVar
Risk rs1057516352(-;-)
Alt rs1057516352(-;-)
Reference Rs1057516352(G;G)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120369665delC
CLNSRC
CLNACC RCV000409303.1,