Source: CLINVAR ×
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: 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: rs397507546
rs397507546
PTPN11
6 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
19 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
25 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
NRAS
14 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
NRAS
13 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
NRAS
12 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
12 0.683 0.440 1 114716127 missense variant C/A;G;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: rs121913474
rs121913474
FGFR2
3 0.790 0.200 10 121515260 missense variant A/G 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: rs79184941
rs79184941
FGFR2
18 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80338796
rs80338796
RAF1
35 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519945
rs1057519945
POLE
4 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
8 0.776 0.320 7 140753332 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397507484
rs397507484
BRAF
10 0.752 0.480 7 140753333 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913364
rs121913364
BRAF
14 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519896
rs1057519896
FBXW7
12 0.742 0.320 4 152326136 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs149680468
rs149680468
FBXW7
12 0.742 0.320 4 152326137 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs866987936
rs866987936
FBXW7
12 0.752 0.240 4 152326214 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs747241612
rs747241612
FBXW7
12 0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519895
rs1057519895
FBXW7
14 0.724 0.240 4 152328232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs867384286
rs867384286
FBXW7
14 0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519875
rs1057519875
ACVR1
2 0.925 0.120 2 157770385 missense variant C/A snv 0.700 1.000 1 2016 2016