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: rs10739221
rs10739221
LINC01505
5 0.851 0.080 9 106298549 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs132985
rs132985
PLA2G6
5 0.827 0.120 22 38167464 intron variant C/T snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs251464
rs251464
PPARGC1B
5 0.851 0.080 5 149816671 intron variant G/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs750664148
rs750664148
MYC ; CASC11
5 0.851 0.200 8 127738434 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs754688962
rs754688962
SF3B1
5 0.851 0.200 2 197402637 missense variant T/C;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: rs121434498
rs121434498
MAP2K2
6 0.807 0.280 19 4117553 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs35158985
rs35158985
CDH1
6 0.882 0.080 16 68762843 intron variant A/G snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs397516792
rs397516792
MAP2K1
6 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4778138
rs4778138
OCA2
6 0.851 0.080 15 28090674 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs756091827
rs756091827
MYC ; CASC11
6 0.851 0.200 8 127738435 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519742
rs1057519742
GNA11
7 0.827 0.160 19 3118944 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
7 0.790 0.240 15 66435116 missense variant A/C 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: rs121913386
rs121913386
CDKN2A
7 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13006529
rs13006529
CASP10
7 0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42 0.010 1.000 1 2008 2008
dbSNP: rs267601395
rs267601395
EZH2
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs770248150
rs770248150
KRAS
7 0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1805006
rs1805006
MC1R
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.020 1.000 2 2001 2008
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519890
rs1057519890
ERBB2
8 0.807 0.200 17 39723966 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.700 1.000 1 2016 2016