Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs104893620
CNGA3
0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 6
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4