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rs1057517047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057517047(-;-)
Make rs1057517047(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51659153
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs1057517047
dbSNP (old)rs1057517047
ClinGenrs1057517047
ebirs1057517047
HLIrs1057517047
Exacrs1057517047
Gnomadrs1057517047
Varsomers1057517047
Maprs1057517047
PheGenIrs1057517047
Biobankrs1057517047
1000 genomesrs1057517047
hgdprs1057517047
ensemblrs1057517047
gopubmedrs1057517047
geneviewrs1057517047
scholarrs1057517047
googlers1057517047
pharmgkbrs1057517047
gwascentralrs1057517047
openSNPrs1057517047
23andMers1057517047
23andMe allrs1057517047
SNPshotrs1057517047
SNPdbers1057517047
MSV3drs1057517047
GWAS Ctlgrs1057517047
Max Magnitude0
ClinVar
Risk rs1057517047(-;-)
Alt rs1057517047(-;-)
Reference Rs1057517047(AT;AT)
Significance Probable-Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51523951_51523952delAT
CLNSRC
CLNACC RCV000412169.1,