rs375040930, CRB1

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.
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
31 0.925 0.080 1 197427616 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2013 2013
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 1 197427616 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2013 2013