rs180729424, RP1

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 1
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
21 0.925 0.080 8 54621481 missense variant T/C;G snv 9.6E-05 0.700 1.000 9 1999 2012
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.925 0.080 8 54621481 missense variant T/C;G snv 9.6E-05 0.010 1.000 1 2015 2015