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: rs2071277
rs2071277
NOTCH4
3 0.882 0.200 6 32203906 intron variant T/C snv 0.48 0.46 0.810 1.000 1 2012 2012
dbSNP: rs11755724
rs11755724
RREB1
7 0.807 0.320 6 7118757 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs17050244
rs17050244 		1 1.000 0.040 2 120525054 regulatory region variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
3 0.882 0.240 6 31965384 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs522162
rs522162
CFB ; CYP21A2 ; NELFE
2 0.925 0.160 6 31952140 3 prime UTR variant T/C snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs6857
rs6857
NECTIN2
16 0.790 0.240 19 44888997 3 prime UTR variant C/T snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs7676999
rs7676999 		1 1.000 0.040 4 116012923 intron variant C/T snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs9380272
rs9380272
C2 ; CYP21A2 ; C2-AS1
1 1.000 0.040 6 31938233 intron variant G/A snv 0.800 1.000 1 2010 2010
dbSNP: rs17073641
rs17073641 		1 1.000 0.040 18 64751208 intergenic variant A/C snv 0.41 0.710 1.000 1 2013 2013
dbSNP: rs10191751
rs10191751 		1 1.000 0.040 2 12822189 intron variant A/G;T snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs1021636
rs1021636 		1 1.000 0.040 1 196876143 intron variant A/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs1042663
rs1042663
C2 ; CYP21A2 ; C2-AS1
3 0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12 0.700 1.000 1 2012 2012
dbSNP: rs10494745
rs10494745
CFHR4 ; LOC105371675
2 1.000 0.040 1 196918327 missense variant G/A snv 8.0E-02 7.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs10510109
rs10510109 		1 1.000 0.040 10 122360941 intergenic variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10737670
rs10737670
KCNT2
2 1.000 0.040 1 196388616 intron variant A/C;G snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs10749466
rs10749466
PLEKHA1
1 1.000 0.040 10 122379288 intron variant A/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10754187
rs10754187
KCNT2
2 1.000 0.040 1 196447122 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10754196
rs10754196
KCNT2
1 1.000 0.040 1 196601576 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10754198
rs10754198
KCNT2
1 1.000 0.040 1 196604375 intron variant A/T snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10754199
rs10754199
CFH
2 1.000 0.040 1 196701709 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10754206
rs10754206 		1 1.000 0.040 1 196851794 intron variant T/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs10781182
rs10781182 		4 0.851 0.040 9 74002804 intergenic variant T/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10788284
rs10788284
PLEKHA1
1 1.000 0.040 10 122390401 intron variant T/C snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs10801530
rs10801530
KCNT2
2 1.000 0.040 1 196392367 intron variant G/T snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs10801531
rs10801531
KCNT2
2 1.000 0.040 1 196394414 intron variant G/A snv 0.27 0.700 1.000 1 2013 2013