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rs1057516607

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516607(-;-)
Make rs1057516607(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position51855911
GenePKHD1
is asnp
is mentioned by
dbSNPrs1057516607
dbSNP (old)rs1057516607
ClinGenrs1057516607
ebirs1057516607
HLIrs1057516607
Exacrs1057516607
Gnomadrs1057516607
Varsomers1057516607
Maprs1057516607
PheGenIrs1057516607
Biobankrs1057516607
1000 genomesrs1057516607
hgdprs1057516607
ensemblrs1057516607
gopubmedrs1057516607
geneviewrs1057516607
scholarrs1057516607
googlers1057516607
pharmgkbrs1057516607
gwascentralrs1057516607
openSNPrs1057516607
23andMers1057516607
23andMe allrs1057516607
SNPshotrs1057516607
SNPdbers1057516607
MSV3drs1057516607
GWAS Ctlgrs1057516607
Max Magnitude0
ClinVar
Risk rs1057516607(-;-)
Alt rs1057516607(-;-)
Reference Rs1057516607(G;G)
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.51720709delC
CLNSRC
CLNACC RCV000411027.1,