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: rs1057519865
rs1057519865
FOXL2 ; FOXL2NB
15 0.742 0.240 3 138946321 missense variant G/C snv 0.100 1.000 14 2009 2016
dbSNP: rs210138
rs210138
BAK1 ; GGNBP1
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.020 1.000 2 2012 2017
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2009 2009
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs200292857
rs200292857
TNFRSF1A
2 0.925 0.160 12 6329974 synonymous variant G/A;C snv 4.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs4324715
rs4324715 		2 0.925 0.160 5 142289942 regulatory region variant C/T snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs4474514
rs4474514
KITLG
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs4624820
rs4624820 		5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs746899020
rs746899020
TNFRSF1A
3 0.882 0.160 12 6329495 missense variant G/A;C snv 4.6E-06 0.010 1.000 1 2011 2011
dbSNP: rs748835289
rs748835289
CASP8
2 0.925 0.160 2 201285037 missense variant G/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs948662
rs948662
GAB2
1 1.000 0.120 11 78268783 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017