Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516038
rs1057516038
KIAA0586
5 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518822
rs1057518822
CEP290
4 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
dbSNP: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs1559307932
rs1559307932
PDE6D
8 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
dbSNP: rs587777804
rs587777804
MKS1
2 1.000 0.120 17 58208156 inframe deletion AAG/- delins 0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
8 0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05 0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0