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: rs786205134
rs786205134
ALG9
3 0.925 0.160 11 111840653 splice donor variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs758522600
rs758522600
BBS10
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 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: rs886039805
rs886039805
CEP290
5 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs886039806
rs886039806
KIAA0586
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
4 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
dbSNP: rs770908659
rs770908659
MKKS
2 1.000 0.120 20 10412556 frameshift variant AG/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs786205508
rs786205508
MKS1
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs886039803
rs886039803
MKS1
3 0.925 0.120 17 58216664 splice donor variant A/T snv 0.700 0
dbSNP: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
6 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 0
dbSNP: rs886039813
rs886039813
OFD1
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518783
rs1057518783
PKD1
1 16 2110081 stop gained G/A snv 0.700 0
dbSNP: rs1057518899
rs1057518899
PKD1
2 16 2111647 stop gained G/A snv 0.700 0
dbSNP: rs1057518976
rs1057518976
PKD1
3 1.000 0.120 16 2111382 missense variant T/C snv 0.700 0
dbSNP: rs1286585831
rs1286585831
PKD1
2 1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1555448106
rs1555448106
PKD1
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0
dbSNP: rs1555450475
rs1555450475
PKD1
2 1.000 0.120 16 2102583 frameshift variant -/G delins 0.700 0
dbSNP: rs1555452400
rs1555452400
PKD1
2 1.000 0.120 16 2105412 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555452653
rs1555452653
PKD1
1 16 2105909 frameshift variant -/C delins 0.700 0