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: rs10216533
rs10216533
PSCA
1 1.000 0.080 8 142682272 3 prime UTR variant G/A;C snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1050631
rs1050631
SLC39A6
4 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1057519951
rs1057519951
RHOA
4 0.882 0.080 3 49375472 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs140081212
rs140081212
GBAP1
2 0.925 0.080 1 155215184 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs2296616
rs2296616
PANK1 ; MIR107
1 1.000 0.080 10 89593209 missense variant G/A;C snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
5 0.925 0.080 17 39724744 missense variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs714
rs714
DCC
4 0.925 0.080 18 52992904 intron variant A/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs1003158162
rs1003158162
TTN ; TTN-AS1
1 1.000 0.080 2 178531968 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1271090915
rs1271090915
RPS6KA3
1 1.000 0.080 X 20167743 missense variant T/C snv 0.700 0
dbSNP: rs1313508921
rs1313508921
MLKL
1 1.000 0.080 16 74682735 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs1331331651
rs1331331651
TLK2
1 1.000 0.080 17 62536325 missense variant C/A snv 8.1E-06 0.700 0
dbSNP: rs1338928289
rs1338928289
EPHB1
1 1.000 0.080 3 135201571 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1366698690
rs1366698690
DCLK1
1 1.000 0.080 13 36125860 missense variant C/T snv 0.700 0
dbSNP: rs141014084
rs141014084
GRK6
1 1.000 0.080 5 177430911 missense variant G/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs144130246
rs144130246
BRSK1
1 1.000 0.080 19 55302746 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1444274116
rs1444274116
ROS1
1 1.000 0.080 6 117393231 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs146710304
rs146710304
ERN1
1 1.000 0.080 17 64054300 missense variant G/A;T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs199684560
rs199684560
TTN ; TTN-AS1
1 1.000 0.080 2 178633512 missense variant G/A snv 7.3E-05 4.2E-05 0.700 0
dbSNP: rs200035802
rs200035802
BMPR1B
1 1.000 0.080 4 95104516 missense variant G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs368222977
rs368222977
NTRK3
1 1.000 0.080 15 88147353 missense variant G/A;C;T snv 8.4E-05; 8.0E-06 0.700 0
dbSNP: rs373526624
rs373526624
TTN ; TTN-AS1
1 1.000 0.080 2 178607095 missense variant C/T snv 7.0E-04 1.6E-04 0.700 0
dbSNP: rs397517769
rs397517769
TTN ; TTN-AS1
1 1.000 0.080 2 178542408 missense variant C/T snv 5.6E-05 1.4E-05 0.700 0
dbSNP: rs539470256
rs539470256
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.080 2 178779033 missense variant C/T snv 1.3E-04 7.7E-05 0.700 0
dbSNP: rs55713867
rs55713867
TTN ; TTN-AS1
1 1.000 0.080 2 178575658 missense variant A/G snv 0.700 0
dbSNP: rs566841339
rs566841339
SPEG ; ASIC4-AS1
1 1.000 0.080 2 219489128 missense variant G/A snv 2.8E-05 2.8E-05 0.700 0