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: rs905938
rs905938
ZBTB7B ; DCST2
5 1 155018913 intron variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs10173538
rs10173538
BAZ2B ; MARCHF7
5 2 159712765 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10181515
rs10181515
LOC646736
1 2 226154745 TF binding site variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs10495563
rs10495563
ADAM17
1 2 9522081 3 prime UTR variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11680809
rs11680809 		1 2 112813232 downstream gene variant C/A snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs1179494
rs1179494
FEZ2
1 2 36582353 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11893688
rs11893688
ADAM17
2 2 9555153 intron variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs12104672
rs12104672
LIMS1 ; GCC2-AS1
1 2 108534717 intron variant T/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs12623454
rs12623454 		1 2 120568721 intergenic variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1374204
rs1374204
LOC101926974 ; LOC105374581
1 2 46257066 non coding transcript exon variant C/T snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs139557015
rs139557015
LINC01934
1 2 181207599 intron variant T/C snv 2.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs17034876
rs17034876
LOC101926974 ; LOC105374581
1 2 46257171 non coding transcript exon variant C/T snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs186606513
rs186606513
CNNM3
1 2 96816264 5 prime UTR variant G/A;C;T snv 2.2E-02; 4.6E-05; 1.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs2280235
rs2280235
STAT1
2 1.000 0.080 2 190979104 splice region variant A/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2551347
rs2551347
ATAD2B ; KLHL29
1 2 23689531 non coding transcript exon variant C/T snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs4952673
rs4952673 		1 2 43196731 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs4953353
rs4953353
EPAS1
1 2 46340137 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2019 2019
dbSNP: rs56188432
rs56188432
ACVR1C
1 2 157550353 missense variant A/G;T snv 7.6E-04; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs754868
rs754868
LOC112268413
1 2 42958392 intergenic variant A/G snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs7563664
rs7563664
CYTIP ; LOC105373712
1 2 157487943 5 prime UTR variant G/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs7575873
rs7575873
ATAD2B
1 2 23739777 intergenic variant A/G snv 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs7596521
rs7596521 		1 2 46691526 regulatory region variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs10935733
rs10935733 		1 3 148905181 intron variant T/C snv 0.52 0.700 1.000 2 2016 2019
dbSNP: rs13322435
rs13322435 		3 3 157077679 upstream gene variant A/G snv 0.46 0.700 1.000 2 2016 2019