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: rs121913243
rs121913243
MET
7 0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 0.700 0
dbSNP: rs121913246
rs121913246
MET
7 0.827 0.200 7 116783360 missense variant A/G snv 0.700 0
dbSNP: rs121913669
rs121913669
MET
2 0.925 0.120 7 116782027 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913670
rs121913670
MET
3 0.925 0.120 7 116783329 missense variant G/A snv 0.700 0
dbSNP: rs121913671
rs121913671
MET
4 0.882 0.160 7 116783353 missense variant G/A;C snv 0.700 0
dbSNP: rs121913673
rs121913673
MET
3 0.925 0.120 7 116782048 missense variant C/G;T snv 0.700 0
dbSNP: rs5030823
rs5030823
VHL
4 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs786202724
rs786202724
MET
5 0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs10771279
rs10771279
ITPR2
2 0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs1154454
rs1154454
ADH7
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 < 0.001 1 2007 2007
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 < 0.001 1 2019 2019
dbSNP: rs333951
rs333951
CSF1
2 0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74 0.010 < 0.001 1 2018 2018
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 < 0.001 1 2010 2010
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2007 2011
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2011
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.020 0.500 2 2016 2019
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2007 2011
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.020 0.500 2 2017 2017
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.020 0.500 2 2016 2019