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: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519901
rs1057519901
FGFR2
5 0.925 0.080 10 121498525 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519963
rs1057519963
SOS1
2 0.925 0.080 2 39054637 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121913476
rs121913476
FGFR2
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786205228
rs786205228
PPP2R1A
6 0.827 0.080 19 52212718 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: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519900
rs1057519900
FGFR2
3 0.882 0.120 10 121515259 missense variant 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: rs1057519949
rs1057519949
RHEB
6 0.851 0.120 7 151490964 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519968
rs1057519968
SPOP ; LOC107984999
2 0.925 0.120 17 49619070 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519969
rs1057519969
SPOP ; LOC107984999
2 0.925 0.120 17 49619069 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519970
rs1057519970
SPOP ; LOC107984999
2 0.925 0.120 17 49619068 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs387906678
rs387906678
FGFR2
5 0.851 0.120 10 121515263 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519045
rs1057519045
FGFR2
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519732
rs1057519732
MAP2K1
6 0.827 0.160 15 66436824 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
10 0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519862
rs1057519862
ERBB2
5 0.851 0.160 17 39723405 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519891
rs1057519891
ERBB3
6 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
ERBB3
5 0.851 0.160 12 56088558 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
9 0.790 0.160 12 56085070 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
MTOR
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
MTOR
4 0.882 0.160 1 11109320 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
MTOR
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
MYCN ; MYCNOS
5 0.851 0.160 2 15942195 missense variant C/T snv 0.700 1.000 1 2016 2016