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: rs3216780
rs3216780
2 5 150053837 3 prime UTR variant -/C;T ins 0.700 1.000 1 2016 2016
dbSNP: rs58904263
rs58904263
2 20 31813603 upstream gene variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs144322196
rs144322196
2 22 17099228 intron variant T/- del 2.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs34834119
rs34834119
2 11 128463122 intron variant AT/- del 0.26 0.700 1.000 1 2016 2016
dbSNP: rs10562650
rs10562650
2 2 181459460 intron variant TT/-;T;TTT delins 0.56 0.700 1.000 1 2016 2016
dbSNP: rs112721625
rs112721625
2 17 59850066 upstream gene variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs11327184
rs11327184
4 8 129592027 intron variant C/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs113899791
rs113899791
2 16 85902784 5 prime UTR variant GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT delins 0.700 1.000 1 2016 2016
dbSNP: rs142105922
rs142105922
2 16 85968988 intron variant TAATAA/-;TAA;TAATAATAA;TAATAATAATAA;TAATAATAATAATAA delins 0.700 1.000 1 2016 2016
dbSNP: rs144110170
rs144110170
2 11 122649353 regulatory region variant C/- delins 0.13 0.700 1.000 1 2016 2016
dbSNP: rs144369129
rs144369129
2 22 17106857 intron variant GCG/-;GCGGCG delins 0.22 0.700 1.000 1 2016 2016
dbSNP: rs144387335
rs144387335
2 6 42010872 non coding transcript exon variant CTT/- delins 0.18 0.700 1.000 1 2016 2016
dbSNP: rs146723115
rs146723115
2 8 67901594 intergenic variant AT/-;ATAT;ATATAT;ATATTTATATATAATATATATAATTTATATATATATATATAT delins 0.700 1.000 1 2016 2016
dbSNP: rs148495678
rs148495678
2 2 181508703 intron variant TAAA/-;TAAATAAA delins 0.25 0.700 1.000 1 2016 2016
dbSNP: rs148550456
rs148550456
2 2 43124884 intron variant ACAC/-;AC;ACACAC;ACACACAC delins 0.700 1.000 1 2016 2016
dbSNP: rs199741557
rs199741557
2 4 104943373 intron variant TC/- delins 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs200243293
rs200243293
2 9 111183336 intron variant G/-;GG delins 0.700 1.000 1 2017 2017
dbSNP: rs200895692
rs200895692
2 1 42956286 intron variant GCCTGTAATCCCAG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs3085271
rs3085271
2 6 81753761 upstream gene variant TT/-;T;TTT delins 0.37 0.700 1.000 1 2016 2016
dbSNP: rs34018670
rs34018670
2 16 80809337 upstream gene variant -/AG delins 0.17 0.700 1.000 1 2016 2016
dbSNP: rs34301845
rs34301845
2 5 132329474 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTTTT delins 0.56 0.700 1.000 1 2016 2016
dbSNP: rs34993178
rs34993178
2 16 85900909 intron variant -/T delins 0.15 0.700 1.000 1 2016 2016
dbSNP: rs35761782
rs35761782
2 12 89504600 intron variant -/T delins 0.70 0.700 1.000 1 2016 2016
dbSNP: rs370221402
rs370221402
2 17 2171733 intron variant TTTTTTTT/-;T;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT delins 0.19 0.700 1.000 1 2016 2016
dbSNP: rs377741153
rs377741153
2 13 28268814 intron variant T/-;TT;TTTTTTTT delins 0.700 1.000 1 2016 2016