rs375952052, CTNS

N. diseases: 3
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 0.882 0.160 17 3660224 intron variant G/A;C snv 2.0E-05; 4.0E-06 0.700 1.000 5 1998 2015
Cystinosis, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
12 0.882 0.160 17 3660224 intron variant G/A;C snv 2.0E-05; 4.0E-06 0.700 1.000 2 1999 2015
Juvenile nephropathic cystinosis (disorder)
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
13 0.882 0.160 17 3660224 intron variant G/A;C snv 2.0E-05; 4.0E-06 0.700 1.000 2 1999 2015