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: rs1567202189
rs1567202189
PKD1
2 1.000 0.080 16 2111276 inframe insertion -/GTG ins 0.700 0
dbSNP: rs1555444249
rs1555444249
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs1555448106
rs1555448106
PKD1
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0
dbSNP: rs1555454915
rs1555454915
PKD1
2 1.000 0.120 16 2109358 frameshift variant A/- del 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: rs1057518797
rs1057518797
PKD2
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1057518952
rs1057518952
PKHD1
3 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518969
rs1057518969
PKD2
3 4 88036325 frameshift variant CT/- delins 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs1553927823
rs1553927823
PKD2
3 0.925 0.240 4 88065804 frameshift variant TACG/- delins 0.700 0
dbSNP: rs1555446033
rs1555446033
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2092144 frameshift variant C/- delins 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
dbSNP: rs1555452876
rs1555452876
PKD1 ; MIR6511B1
5 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
dbSNP: rs1555454847
rs1555454847
PKD1
4 0.882 0.240 16 2109266 inframe deletion CAC/- delins 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: rs758522600
rs758522600
BBS10
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 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: rs886039791
rs886039791
TXNDC15
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
4 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
dbSNP: rs886039805
rs886039805
CEP290
5 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
dbSNP: rs886039813
rs886039813
OFD1
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs886040959
rs886040959
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0