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.
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
55 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.720 1.000 5 1998 2019
Cystinosis
CUI: C4316899
Disease: Cystinosis
27 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.710 1.000 1 1998 1998
Cystinosis, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
12 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.700 1.000 4 1998 2002
Juvenile nephropathic cystinosis (disorder)
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
13 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.700 1.000 4 1998 2002
Fanconi Syndrome
CUI: C0015624
Disease: Fanconi Syndrome
4 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.020 1.000 2 2002 2019