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: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 1.000 2 2014 2017
dbSNP: rs1057518761
rs1057518761
PAX2
1 10 100750693 splice region variant TACTACGAGACCGG/- delins 0.700 0
dbSNP: rs1057518856
rs1057518856
PKD1
5 0.882 0.240 16 2102397 missense variant A/T snv 0.700 0
dbSNP: rs1057518952
rs1057518952
PKHD1
3 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
9 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
dbSNP: rs1555202697
rs1555202697
BBS10
5 0.882 0.160 12 76347446 missense variant C/T snv 0.700 0
dbSNP: rs1555932766
rs1555932766
USP9X
9 0.882 0.080 X 41210540 stop gained C/T snv 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs786204707
rs786204707
PKHD1
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
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: rs182089527
rs182089527
PDE1A
3 0.925 0.120 2 182241913 start lost A/C snv 1.5E-03 5.3E-04 0.010 1.000 1 2017 2017
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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2015 2015
dbSNP: rs886041114
rs886041114
PKD2
2 1.000 0.120 4 88046642 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011