rs137852944, PKHD1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
317 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.810 1.000 19 2002 2015
Polycystic liver disease
CUI: C0158683
Disease: Polycystic liver disease
17 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 1.000 1 2017 2017
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 0
Periportal fibrosis
CUI: C1849766
Disease: Periportal fibrosis
1 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 0