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: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2020 2020
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: rs1057518906
rs1057518906
PKD2
1 4 88007878 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1057518969
rs1057518969
PKD2
3 4 88036325 frameshift variant CT/- delins 0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs1553927823
rs1553927823
PKD2
3 0.925 0.240 4 88065804 frameshift variant TACG/- 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: rs886039791
rs886039791
TXNDC15
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs1057518952
rs1057518952
PKHD1
3 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
dbSNP: rs137852944
rs137852944
PKHD1
5 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 0
dbSNP: rs181208607
rs181208607
PKHD1
2 1.000 0.120 6 51847966 stop gained G/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs754392766
rs754392766
PKHD1
2 1.000 0.120 6 52058355 stop gained G/A;C snv 0.700 0
dbSNP: rs786204707
rs786204707
PKHD1
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
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: 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: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs886039804
rs886039804
TMEM138
4 0.882 0.120 11 61366050 missense variant A/G 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: rs758522600
rs758522600
BBS10
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 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: rs886039806
rs886039806
KIAA0586
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0