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: rs786205134
rs786205134
ALG9
3 0.925 0.160 11 111840653 splice donor variant A/T snv 0.700 1.000 1 2016 2016
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: rs1057518906
rs1057518906
PKD2
1 4 88007878 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1057518959
rs1057518959
PKD1 ; MIR1225 ; LOC105371049
2 16 2091794 missense variant A/G snv 0.700 0
dbSNP: rs1057518976
rs1057518976
PKD1
3 1.000 0.120 16 2111382 missense variant T/C snv 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: rs1286585831
rs1286585831
PKD1
2 1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-06 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: rs1553827236
rs1553827236
CC2D2A
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs1555459345
rs1555459345
PKD1
3 1.000 0.040 16 2119114 missense variant A/G snv 0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1567155145
rs1567155145
PKD1 ; LOC105371049
1 16 2092534 stop gained G/A snv 0.700 0
dbSNP: rs1567159074
rs1567159074
PKD1 ; LOC105371049
1 16 2094014 splice acceptor variant C/T snv 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: rs566014072
rs566014072
PKD1
3 16 2110321 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs747483368
rs747483368
PKD1
3 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
dbSNP: rs754392766
rs754392766
PKHD1
2 1.000 0.120 6 52058355 stop gained G/A;C snv 0.700 0
dbSNP: rs773386777
rs773386777
CEP290
6 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
dbSNP: rs777269070
rs777269070
PKD1 ; MIR1225 ; LOC105371049
1 16 2090777 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs780009030
rs780009030
PKD1
2 1.000 0.120 16 2097376 stop gained C/A;T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs786204707
rs786204707
PKHD1
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
dbSNP: rs786205508
rs786205508
MKS1
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0