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rs1057517371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517371(-;G)
Make rs1057517371(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120638490
GeneHGD
is asnp
is mentioned by
dbSNPrs1057517371
dbSNP (old)rs1057517371
ClinGenrs1057517371
ebirs1057517371
HLIrs1057517371
Exacrs1057517371
Gnomadrs1057517371
Varsomers1057517371
LitVarrs1057517371
Maprs1057517371
PheGenIrs1057517371
Biobankrs1057517371
1000 genomesrs1057517371
hgdprs1057517371
ensemblrs1057517371
gopubmedrs1057517371
geneviewrs1057517371
scholarrs1057517371
googlers1057517371
pharmgkbrs1057517371
gwascentralrs1057517371
openSNPrs1057517371
23andMers1057517371
23andMe allrs1057517371
SNPshotrs1057517371
SNPdbers1057517371
MSV3drs1057517371
GWAS Ctlgrs1057517371
Max Magnitude0
ClinVar
Risk rs1057517371(G;G)
Alt rs1057517371(G;G)
Reference Rs1057517371(-;-)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120357338dupC
CLNSRC
CLNACC RCV000409682.1,