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: rs1009647
rs1009647
ATG14
2 1.000 0.120 14 55413329 upstream gene variant G/A snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs10137185
rs10137185
ESR2
2 0.925 0.200 14 64309058 intron variant C/T snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs10146204
rs10146204 		2 1.000 0.120 14 64352051 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs10275045
rs10275045
MAD1L1
5 0.882 0.160 7 1881190 intron variant C/T snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs10510452
rs10510452 		2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.800 1.000 4 2013 2017
dbSNP: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 0
dbSNP: rs11071896
rs11071896
ZWILCH
2 1.000 0.120 15 66528912 missense variant A/G snv 0.23 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11155671
rs11155671
KATNA1
1 1.000 0.120 6 149650996 upstream gene variant G/A snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs11202586
rs11202586 		1 1.000 0.120 10 87852267 intergenic variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs11205
rs11205
HSD17B4
1 1.000 0.120 5 119526018 missense variant A/G snv 0.42 0.41 0.010 1.000 1 2010 2010
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 2020 2020
dbSNP: rs11705932
rs11705932
TFDP2
1 1.000 0.120 3 142100008 intron variant C/T snv 0.20 0.710 1.000 2 2015 2017
dbSNP: rs11769858
rs11769858 		1 1.000 0.120 7 158708801 upstream gene variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 0
dbSNP: rs12228415
rs12228415
ATF7IP
1 1.000 0.120 12 14367767 intron variant A/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs12434245
rs12434245
ESR2 ; SYNE2
1 1.000 0.120 14 64225135 intron variant C/T snv 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs12435857
rs12435857
ESR2
3 0.925 0.200 14 64256807 intron variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs12481572
rs12481572
ZFP64 ; LOC105372664
1 1.000 0.120 20 52091515 intron variant A/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs1267543
rs1267543
TEX14 ; LOC107985048
1 1.000 0.120 17 58579263 intron variant A/G snv 0.78 0.700 1.000 1 2013 2013
dbSNP: rs12699477
rs12699477
MAD1L1
2 1.000 0.120 7 1929317 intron variant T/C snv 0.28 0.800 1.000 3 2013 2017
dbSNP: rs12912292
rs12912292 		1 1.000 0.120 15 55746509 upstream gene variant G/A snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs1355972653
rs1355972653
IFNGR2
3 0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs137853078
rs137853078
STK11
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 1.000 3 1998 2008
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.010 1.000 1 2011 2011