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: rs9557635
rs9557635
NALCN
1 1.000 0.040 13 101398739 intron variant A/G snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs193100333
rs193100333
YAP1
1 1.000 0.040 11 102209523 missense variant C/T snv 3.0E-04 1.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs11591710
rs11591710 		3 0.882 0.160 10 103927874 intergenic variant A/C snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs190996050
rs190996050 		1 1.000 0.040 5 1048492 downstream gene variant T/C snv 5.7E-03 0.700 1.000 1 2017 2017
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs78442819
rs78442819
TEKT5
2 1.000 0.040 16 10647125 intron variant G/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs879254046
rs879254046
ATM
2 0.925 0.240 11 108267246 stop gained G/A;C;T snv 0.700 0
dbSNP: rs611646
rs611646
ATM
3 0.882 0.120 11 108306370 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs745775382
rs745775382
ATM ; C11orf65
1 1.000 0.040 11 108333954 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs879254065
rs879254065
ATM ; C11orf65
1 1.000 0.040 11 108345849 missense variant C/G snv 0.700 0
dbSNP: rs3827760
rs3827760
RANBP2 ; EDAR
11 0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs397507546
rs397507546
PTPN11
9 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7086803
rs7086803
VTI1A
9 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs26538
rs26538
AP3S1 ; ATG12
1 1.000 0.040 5 115842698 intron variant C/T snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs1484038087
rs1484038087
ROS1
1 1.000 0.040 6 117317181 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1057519788
rs1057519788
ROS1
6 0.925 0.080 6 117317184 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs6942067
rs6942067
DCBLD1
1 1.000 0.040 6 117464533 intron variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs9387478
rs9387478
DCBLD1
4 0.851 0.080 6 117465017 intron variant C/A;T snv 0.700 1.000 1 2019 2019