rs151340626, CLCN5

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.
Hypophosphatemic Rickets, X-Linked Recessive
1 0.827 0.200 X 50085987 missense variant C/T snv 0.800 1.000 2 1996 2011
Dent's disease
CUI: C0878681
Disease: Dent's disease
12 0.827 0.200 X 50085987 missense variant C/T snv 0.710 1.000 1 1998 1998
Dent disease 1
CUI: C1848336
Disease: Dent disease 1
22 0.827 0.200 X 50085987 missense variant C/T snv 0.700 1.000 6 1996 2014
Kidney Failure
CUI: C0035078
Disease: Kidney Failure
36 0.827 0.200 X 50085987 missense variant C/T snv 0.010 1.000 1 1998 1998
Rickets
CUI: C0035579
Disease: Rickets
16 0.827 0.200 X 50085987 missense variant C/T snv 0.010 1.000 1 1998 1998