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: rs1254244346
rs1254244346
ABCA1
1 1.000 0.080 9 104822502 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1424847607
rs1424847607
EPHA2
1 1.000 0.080 1 16133591 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs772862415
rs772862415
CD44
1 1.000 0.080 11 35211278 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs773393960
rs773393960
PMS2
1 1.000 0.080 7 5977653 missense variant G/A;C snv 8.1E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1207121718
rs1207121718
CAMKK2
1 1.000 0.080 12 121269557 missense variant C/T snv 0.700 0
dbSNP: rs1262765773
rs1262765773
TBK1
1 1.000 0.080 12 64485493 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1294404368
rs1294404368
TRRAP
1 1.000 0.080 7 98981947 missense variant C/T snv 4.4E-06 1.4E-05 0.700 0
dbSNP: rs138398778
rs138398778
ATM
1 1.000 0.080 11 108247071 missense variant C/A;T snv 8.0E-06; 8.8E-05 0.700 0
dbSNP: rs140213020
rs140213020
ROR2
1 1.000 0.080 9 91724870 missense variant C/A;T snv 8.2E-06; 2.0E-05 0.700 0
dbSNP: rs140599545
rs140599545
NEK11
1 1.000 0.080 3 131228602 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1407808379
rs1407808379
CAMKV
1 1.000 0.080 3 49862154 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs145602440
rs145602440
KIT
1 1.000 0.080 4 54733118 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs147978363
rs147978363
EEF2K
1 1.000 0.080 16 22257356 missense variant C/T snv 6.7E-04 5.6E-04 0.700 0
dbSNP: rs149061352
rs149061352
TTN
1 1.000 0.080 2 178785717 missense variant G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs149403911
rs149403911
RET
1 1.000 0.080 10 43102492 missense variant G/A;T snv 2.0E-05 0.700 0
dbSNP: rs200709914
rs200709914
NEK11
1 1.000 0.080 3 131080575 missense variant C/T snv 4.8E-05 9.8E-05 0.700 0
dbSNP: rs368370244
rs368370244
PHKG1
1 1.000 0.080 7 56087718 missense variant C/T snv 3.6E-05 5.6E-05 0.700 0
dbSNP: rs373605259
rs373605259
DCLK3
1 1.000 0.080 3 36737396 missense variant C/T snv 5.2E-05 2.1E-05 0.700 0
dbSNP: rs373632999
rs373632999
TRRAP
1 1.000 0.080 7 98949733 missense variant G/A snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs376029388
rs376029388
RPS6KA2
1 1.000 0.080 6 166412769 missense variant C/T snv 1.3E-05 2.1E-05 0.700 0
dbSNP: rs376894109
rs376894109
PRKCZ
1 1.000 0.080 1 2175293 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs528967912
rs528967912
TRRAP
1 1.000 0.080 7 98964724 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs539738963
rs539738963
STK40
1 1.000 0.080 1 36348807 missense variant C/T snv 2.2E-05 1.4E-05 0.700 0
dbSNP: rs555460132
rs555460132
CAMK2B
1 1.000 0.080 7 44228798 missense variant G/A snv 1.9E-04 2.0E-04 0.700 0
dbSNP: rs587779858
rs587779858
ATM
1 1.000 0.080 11 108227692 missense variant G/A snv 0.700 0