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: rs2542713
rs2542713
C9 ; DAB2
3 1.000 0.040 5 39385539 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs261332
rs261332
LIPC ; ALDH1A2 ; LIPC-AS1
20 0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs2866611
rs2866611 		16 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs2923008
rs2923008
HLA-B
3 1.000 0.040 6 31349134 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs3132374
rs3132374 		3 1.000 0.040 6 28900717 downstream gene variant C/G snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs35789010
rs35789010
CARMIL1
7 0.851 0.200 6 25513951 intron variant G/A snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs3765209
rs3765209
LOC101927745
7 0.851 0.040 21 15417030 intron variant C/T snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3812035
rs3812035
SLC34A1
4 1.000 0.040 5 177390142 3 prime UTR variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs413988
rs413988
TPPP
3 1.000 0.040 5 698535 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4258701
rs4258701 		2 1.000 0.040 18 27895834 intergenic variant C/T snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs460976
rs460976 		7 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4704221
rs4704221
CERT1
16 0.851 0.120 5 75463358 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs478442
rs478442 		18 0.851 0.120 2 21176344 intergenic variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs4833103
rs4833103
TLR1
5 0.925 0.160 4 38813881 intron variant A/C snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs4905014
rs4905014
ITPK1
16 0.851 0.120 14 92945686 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs497309
rs497309
C2 ; CYP21A2
5 0.882 0.240 6 31924707 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs56013828
rs56013828
ARG1
3 1.000 0.040 6 131511584 intron variant G/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs562338
rs562338 		21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs5744680
rs5744680
POLK
18 0.851 0.120 5 75584065 intron variant G/A snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs59825600
rs59825600
KAZN ; LOC105376759
2 1.000 0.040 1 14806568 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs60307791
rs60307791 		3 1.000 0.040 11 65767714 intron variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2019 2019