Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518761
PAX2
10 100750693 splice region variant TACTACGAGACCGG/- delins 1
rs140511594
TTC21B ; TTC21B-AS1
0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 13
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1458766475
C1orf112 ; SELE
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs182089527
PDE1A
0.925 0.120 2 182241913 start lost A/C snv 1.5E-03 5.3E-04 3
rs1057518856
PKD1
0.882 0.240 16 2102397 missense variant A/T snv 5
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs1057518952
PKHD1
1.000 0.080 6 52024728 frameshift variant -/C delins 3
rs786204707
PKHD1
0.925 0.200 6 52043636 stop gained C/T snv 4
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs1555202697
BBS10
0.882 0.160 12 76347446 missense variant C/T snv 5
rs886041114
PKD2
1.000 0.120 4 88046642 missense variant G/A;T snv 4.0E-06 2
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28