Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs213950
CFTR-AS1 ; CFTR
0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 16
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 10
rs773386777
CEP290
1.000 0.160 12 88093977 splice acceptor variant T/C snv 6
rs1057518976
PKD1
1.000 0.120 16 2111382 missense variant T/C snv 3