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: rs1057518976
rs1057518976
PKD1
3 1.000 0.120 16 2111382 missense variant T/C snv 0.700 0
dbSNP: rs386834158
rs386834158
CEP290
10 0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 0.700 0
dbSNP: rs773386777
rs773386777
CEP290
6 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2016 2016