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: rs1057519908
rs1057519908
MAP2K1
4 0.882 0.120 15 66435105 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
MAP2K2
4 0.851 0.160 19 4117551 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
4 0.851 0.120 7 6387262 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519959
rs1057519959
SF3B2
4 0.882 0.200 11 66063028 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961
SF3B1
4 0.851 0.240 2 197402759 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs10816595
rs10816595 		4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10830253
rs10830253
TYR
4 0.851 0.080 11 89294875 intron variant T/G snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs137854599
rs137854599
CDKN2A
4 0.882 0.080 9 21971093 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2995264
rs2995264
STN1
4 0.851 0.080 10 103909085 intron variant G/A snv 0.88 0.700 1.000 1 2015 2015
dbSNP: rs34466956
rs34466956
NFIC
4 0.882 0.080 19 3353624 intron variant C/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs56238684
rs56238684
PIGU
4 0.882 0.080 20 34648892 intron variant G/C snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs6750047
rs6750047
RMDN2
4 0.851 0.080 2 38049406 intron variant A/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs6914598
rs6914598
CDKAL1
4 0.851 0.080 6 21163688 intron variant T/C snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs75570604
rs75570604
FANCA
4 0.851 0.080 16 89780269 intron variant G/C snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs775623976
rs775623976
SF3B1
4 0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs868438023
rs868438023
KNSTRN
4 0.882 0.080 15 40382906 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs869329
rs869329
MTAP
4 0.851 0.080 9 21804694 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs104894340
rs104894340
CDK4
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
5 0.851 0.120 15 66435103 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519786
rs1057519786
ARAF
5 0.882 0.160 X 47566722 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
5 0.925 0.120 5 68295269 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
MYC ; CASC11
5 0.851 0.200 8 127738390 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016