rs752963712, PDE6C

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.
Achromatopsia
CUI: C0152200
Disease: Achromatopsia
63 0.882 0.160 10 93640953 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
Achromatopsia 1
CUI: C0302129
Disease: Achromatopsia 1
14 0.882 0.160 10 93640953 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
Atrophoderma maculatum
CUI: C1288283
Disease: Atrophoderma maculatum
2 0.882 0.160 10 93640953 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015