rs137853005, PROM1

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.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2007 2007
RETINITIS PIGMENTOSA 41 (disorder)
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
7 0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 0.700 0