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: rs1057519853
rs1057519853
GNAQ
6 0.851 0.080 9 77794572 missense variant TG/AA mnv 0.010 < 0.001 1 2018 2018
dbSNP: rs1057519865
rs1057519865
FOXL2 ; FOXL2NB
15 0.742 0.240 3 138946321 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs11283943
rs11283943
MCC
4 0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 0.010 1.000 1 2011 2011
dbSNP: rs1131691021
rs1131691021
TP53
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11646171
rs11646171
CDH8
1 16 61824185 intron variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs11669203
rs11669203
MAP2K7 ; TGFBR3L
4 0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs11777210
rs11777210
KBTBD11
2 1.000 0.080 8 1979843 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1188536960
rs1188536960
SORD
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121908568
rs121908568
AXIN2
9 0.807 0.160 17 65536495 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121908586
rs121908586
PDGFRA
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs121912518
rs121912518
LHCGR ; GTF2A1L ; STON1-GTF2A1L
5 0.882 0.160 2 48688064 missense variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121913492
rs121913492
GNAQ
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913503
rs121913503
IDH2
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2007 2007