rs189234741, CNGB1

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
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 16 57962611 splice acceptor variant C/G;T snv 4.0E-06; 7.2E-05 0.700 1.000 3 2011 2015
RETINITIS PIGMENTOSA 45
CUI: C3151066
Disease: RETINITIS PIGMENTOSA 45
3 0.925 0.080 16 57962611 splice acceptor variant C/G;T snv 4.0E-06; 7.2E-05 0.700 0