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: rs147453535
rs147453535
2 14 23117837 intron variant A/C snv 6.3E-03 6.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs184853555
rs184853555
1 11 49933299 intergenic variant A/C snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs2072735
rs2072735
2 1 9295413 intron variant A/C snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs2847273
rs2847273
1 18 12856909 intron variant A/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs34224666
rs34224666
1 17 2962495 non coding transcript exon variant A/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs4912892
rs4912892
1 5 143046673 intron variant A/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs55756407
rs55756407
1 7 20593249 downstream gene variant A/C snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs7150940
rs7150940
1 14 60223913 intergenic variant A/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs75526024
rs75526024
1 3 46208969 intron variant A/C snv 4.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs7649379
rs7649379
1 3 112121666 3 prime UTR variant A/C snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs77940566
rs77940566
2 6 42542864 intergenic variant A/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs9349322
rs9349322
1 6 45666355 downstream gene variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs7288670
rs7288670
4 22 24225858 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs10241173
rs10241173
1 7 124813204 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs111526888
rs111526888
1 18 60304392 downstream gene variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs112505971
rs112505971
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs117407105
rs117407105
1 2 136168220 regulatory region variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2239630
rs2239630
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs3016175
rs3016175
1 11 61062895 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs34108746
rs34108746
1 11 57378752 missense variant A/C;G snv 4.0E-06; 5.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs395892
rs395892
CLC
1 19 39735635 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs4887991
rs4887991
1 16 78887166 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7192652
rs7192652
2 16 57041268 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs8017228
rs8017228
2 14 24980020 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1059091
rs1059091
1 11 309127 missense variant A/C;G;T snv 0.42 0.700 1.000 1 2019 2019