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: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.010 < 0.001 1 2014 2014
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.050 1.000 5 2015 2018
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.050 1.000 5 2015 2018
dbSNP: rs10028805
rs10028805
BANK1
3 0.882 0.160 4 101816093 intron variant G/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs71597109
rs71597109
BANK1
2 0.925 0.120 4 101819845 intron variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs2511713
rs2511713 		2 0.925 0.120 8 102565637 downstream gene variant A/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs2511714
rs2511714 		2 0.925 0.120 8 102566646 regulatory region variant T/G snv 0.41 0.800 1.000 2 2013 2016
dbSNP: rs2307842
rs2307842
HSP90B1 ; C12orf73
1 1.000 0.120 12 103947867 3 prime UTR variant GACT/-;GACTGACT delins 0.15 0.010 1.000 1 2015 2015
dbSNP: rs898518
rs898518
LEF1
2 0.925 0.120 4 108095668 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs7690934
rs7690934
LEF1
2 0.925 0.120 4 108104709 intron variant T/C snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs2003869
rs2003869
LEF1
2 0.925 0.120 4 108105258 intron variant A/C;G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs371713984
rs371713984
ATM
1 1.000 0.120 11 108247110 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs369203092
rs369203092
ATM
1 1.000 0.120 11 108247117 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs1041569
rs1041569
TNFSF13B
1 1.000 0.120 13 108267195 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs9514828
rs9514828
TNFSF13B
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.020 1.000 2 2015 2016
dbSNP: rs567060474
rs567060474
ATM ; C11orf65
1 1.000 0.120 11 108326070 missense variant G/A;T snv 1.0E-04 0.700 0
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs13401811
rs13401811
ACOXL
2 0.925 0.120 2 110858527 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs58055674
rs58055674
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111074216 intron variant T/C snv 0.13 0.700 1.000 2 2016 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017