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: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 0
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 0
dbSNP: rs757545210
rs757545210
STK10
1 1.000 0.120 5 172105697 missense variant T/C snv 0.700 0
dbSNP: rs7107174
rs7107174
GAB2
1 1.000 0.120 11 78286890 intron variant C/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs7221274
rs7221274
PPM1E
1 1.000 0.120 17 58930767 intron variant A/G snv 0.38 0.710 1.000 1 2013 2013
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: 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: 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: 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: 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: 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: rs17153755
rs17153755
GATA4
1 1.000 0.120 8 11753991 intron variant C/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs17336718
rs17336718
TKTL1
1 1.000 0.120 X 154307767 intron variant C/T snv 4.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17689040
rs17689040
LOC105375242
1 1.000 0.120 7 40880714 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2241024
rs2241024
LINC00662
1 1.000 0.120 19 27766485 intron variant G/A snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs2713206
rs2713206
TFCP2L1
1 1.000 0.120 2 121250365 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs34601376
rs34601376 		1 1.000 0.120 19 23868026 intron variant A/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs3755605
rs3755605
GPR160
1 1.000 0.120 3 170038331 non coding transcript exon variant C/T snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs3778991
rs3778991
MAD1L1
1 1.000 0.120 7 2132820 intron variant G/A snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs3805663
rs3805663
PITX1
2 1.000 0.120 5 135030510 intron variant A/G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs4240895
rs4240895
PIK3CD ; PIK3CD-AS1
1 1.000 0.120 1 9653328 non coding transcript exon variant C/T snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs4324715
rs4324715 		2 0.925 0.160 5 142289942 regulatory region variant C/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs4599029
rs4599029 		1 1.000 0.120 19 53781435 intergenic variant G/A;T snv 0.700 1.000 1 2017 2017