rs1245199379, CA4

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.
Retinitis Pigmentosa 17
CUI: C1833245
Disease: Retinitis Pigmentosa 17
4 0.925 0.080 17 60150068 missense variant G/A snv 4.5E-06 7.0E-06 0.700 1.000 3 2005 2010
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 17 60150068 missense variant G/A snv 4.5E-06 7.0E-06 0.010 1.000 1 2010 2010