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rs1057516355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516355(C;C)
Make rs1057516355(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120682109
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516355
dbSNP (old)rs1057516355
ClinGenrs1057516355
ebirs1057516355
HLIrs1057516355
Exacrs1057516355
Gnomadrs1057516355
Varsomers1057516355
Maprs1057516355
PheGenIrs1057516355
Biobankrs1057516355
1000 genomesrs1057516355
hgdprs1057516355
ensemblrs1057516355
gopubmedrs1057516355
geneviewrs1057516355
scholarrs1057516355
googlers1057516355
pharmgkbrs1057516355
gwascentralrs1057516355
openSNPrs1057516355
23andMers1057516355
23andMe allrs1057516355
SNPshotrs1057516355
SNPdbers1057516355
MSV3drs1057516355
GWAS Ctlgrs1057516355
Max Magnitude0
ClinVar
Risk rs1057516355(C;C)
Alt rs1057516355(C;C)
Reference Rs1057516355(G;G)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120400956C>G
CLNSRC
CLNACC RCV000412049.1,