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: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.040 1.000 4 2013 2019
dbSNP: rs3130542
rs3130542 		8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.020 1.000 2 2015 2016
dbSNP: rs10853728
rs10853728 		5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11977021
rs11977021 		5 0.827 0.240 7 106288069 upstream gene variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs2517459
rs2517459 		6 0.882 0.160 6 30929245 downstream gene variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs2532932
rs2532932 		2 0.925 0.160 6 30927667 downstream gene variant A/G snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs2856718
rs2856718 		8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs6462008
rs6462008 		1 1.000 0.080 7 27309860 intergenic variant G/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs7944135
rs7944135 		1 1.000 0.080 11 59253514 upstream gene variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs8105790
rs8105790 		2 0.925 0.160 19 39241861 upstream gene variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs9275319
rs9275319 		6 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs8177832
rs8177832
APOBEC3G
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2070150
rs2070150
ATF6
6 0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs757537938
rs757537938
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs414171
rs414171
CISH ; MAPKAPK3
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2019 2019
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2019 2019
dbSNP: rs676925
rs676925
CXCR5 ; BCL9L
1 1.000 0.080 11 118894979 3 prime UTR variant C/G snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs35875104
rs35875104
CYP21A2 ; EHMT2
1 1.000 0.080 6 31888517 intron variant T/C snv 3.0E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.010 1.000 1 2019 2019
dbSNP: rs4646536
rs4646536
CYP27B1
14 0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 0.010 1.000 1 2017 2017