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: rs2186607
rs2186607
TRPC6
10 0.776 0.080 11 101785666 intron variant T/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs4450168
rs4450168
SBF2
9 0.790 0.080 11 10265208 intron variant A/C;T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs4919687
rs4919687
CYP17A1
14 0.742 0.160 10 102835491 non coding transcript exon variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs12548629
rs12548629
BAALC ; BAALC-AS1
10 0.776 0.120 8 103189173 intron variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs1254244346
rs1254244346
ABCA1
1 1.000 0.080 9 104822502 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17035289
rs17035289 		9 0.790 0.080 4 105127134 intergenic variant T/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs17035310
rs17035310 		10 0.790 0.080 4 105143597 upstream gene variant C/T snv 0.14 0.700 1.000 1 2015 2015
dbSNP: rs1391441
rs1391441
TET2 ; TET2-AS1
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs6928864
rs6928864 		9 0.790 0.080 6 105519019 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs764355898
rs764355898
NRK
1 1.000 0.080 X 105923145 missense variant A/C snv 7.9E-05 1.9E-05 0.700 0
dbSNP: rs1512436
rs1512436 		10 0.790 0.080 11 106436144 intergenic variant T/C snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 3 2019 2019
dbSNP: rs587779858
rs587779858
ATM
1 1.000 0.080 11 108227692 missense variant G/A snv 0.700 0
dbSNP: rs772821016
rs772821016
ATM
4 0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs138398778
rs138398778
ATM
1 1.000 0.080 11 108247071 missense variant C/A;T snv 8.0E-06; 8.8E-05 0.700 0
dbSNP: rs202160435
rs202160435
ATM
2 0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05 0.700 0
dbSNP: rs730881315
rs730881315
ATM ; C11orf65
1 1.000 0.080 11 108329154 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs587782310
rs587782310
ATM ; C11orf65
1 1.000 0.080 11 108330234 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs9583269
rs9583269
MYO16
9 0.790 0.080 13 108630682 intron variant C/T snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs7993934
rs7993934
COL4A2
9 0.790 0.080 13 110422568 intron variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs8000189
rs8000189
COL4A2
10 0.776 0.080 13 110423534 intron variant C/T snv 0.61 0.700 1.000 1 2019 2019