rs780697796, PROM1

N. diseases: 2
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.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 1.000 0.080 4 16033377 stop gained G/A;T snv 1.2E-05; 8.0E-06 0.700 1.000 1 2015 2015
RETINITIS PIGMENTOSA 41 (disorder)
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
7 1.000 0.080 4 16033377 stop gained G/A;T snv 1.2E-05; 8.0E-06 0.700 0