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rs1057516849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516849(-;-)
Make rs1057516849(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120675821
GeneHGD
is asnp
is mentioned by
dbSNPrs1057516849
dbSNP (old)rs1057516849
ClinGenrs1057516849
ebirs1057516849
HLIrs1057516849
Exacrs1057516849
Gnomadrs1057516849
Varsomers1057516849
Maprs1057516849
PheGenIrs1057516849
Biobankrs1057516849
1000 genomesrs1057516849
hgdprs1057516849
ensemblrs1057516849
gopubmedrs1057516849
geneviewrs1057516849
scholarrs1057516849
googlers1057516849
pharmgkbrs1057516849
gwascentralrs1057516849
openSNPrs1057516849
23andMers1057516849
23andMe allrs1057516849
SNPshotrs1057516849
SNPdbers1057516849
MSV3drs1057516849
GWAS Ctlgrs1057516849
Max Magnitude0
ClinVar
Risk rs1057516849(-;-)
Alt rs1057516849(-;-)
Reference Rs1057516849(C;C)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120394668delG
CLNSRC
CLNACC RCV000411427.1,