rs527236088, PDE6B

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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06 0.700 0
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
22 0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06 0.700 0
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
31 0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998