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: rs2240736
rs2240736
TBX2
4 17 61408032 non coding transcript exon variant C/T snv 0.64 0.68 0.700 1.000 2 2015 2018
dbSNP: rs751984
rs751984
LRRC10B
4 11 61510774 3 prime UTR variant T/C snv 0.16 0.700 1.000 2 2015 2018
dbSNP: rs490234
rs490234
MAPKAP1
1 9 125541455 intron variant T/C snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.700 1.000 3 2016 2018
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 3 2016 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 2 2016 2018
dbSNP: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.700 1.000 2 2016 2018
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 2 2016 2018
dbSNP: rs1887320
rs1887320 		6 20 10985350 intron variant G/A snv 0.46 0.700 1.000 2 2016 2018
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs35444
rs35444 		6 12 115114632 intergenic variant A/G snv 0.38 0.700 1.000 2 2016 2018
dbSNP: rs900145
rs900145 		4 11 13272358 upstream gene variant C/T snv 0.62 0.700 1.000 2 2016 2018
dbSNP: rs1005902
rs1005902
HECTD4
1 12 112229871 missense variant T/C;G snv 4.1E-06; 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10204405
rs10204405 		1 2 164191236 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs1060407
rs1060407
MAP4
1 3 47916547 missense variant G/A;T snv 4.0E-06; 0.29 0.700 1.000 1 2016 2016
dbSNP: rs11014166
rs11014166
CACNB2
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs11024074
rs11024074
PLEKHA7
5 0.925 0.040 11 16895672 intron variant T/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs111245230
rs111245230
SVEP1
3 1.000 0.040 9 110407495 missense variant T/C snv 2.6E-02 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs1173727
rs1173727 		4 5 32830415 intergenic variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs12148488
rs12148488
PPCDC
1 15 75090201 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12801636
rs12801636
PCNX3
5 1.000 0.040 11 65623846 intron variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs12941884
rs12941884
PIPOX ; SEZ6 ; LOC105371716
2 17 28957425 missense variant A/G snv 0.15 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs167479
rs167479
RGL3
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016