Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10752747
MMEL1
1 2593476 intron variant G/T snv 0.41 2
rs12138909
MMEL1
1 2607299 intron variant C/T snv 0.11 2
rs1425186769
P2RX2
1.000 0.120 12 132620303 missense variant C/T snv 4.4E-05 3.5E-05 2
rs1483068801
P2RX6
1.000 0.120 22 21025861 missense variant T/C snv 1.1E-05 2
rs305217
PKN2
1.000 0.080 1 88754789 intron variant G/A snv 8.6E-02 2
rs45450798
PTPN2
1.000 0.120 18 12792941 3 prime UTR variant C/G snv 0.12 2
rs17612648
PTPRC
1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 2
rs4798571
PTPRM
1.000 0.080 18 7584296 intron variant G/A snv 0.39 2
rs6706689
PUS10
2 60943910 intron variant A/G snv 0.48 2
rs2780814
RAVER2
1.000 0.040 1 64827272 intron variant C/G;T snv 2
rs1194849
SPRED2
2 65379519 intron variant T/C snv 0.49 2
rs1876518
SPRED2
2 65381775 intron variant C/T snv 0.45 2
rs1467199
STAT1
1.000 0.120 2 191015776 intron variant C/G;T snv 2
rs140490
UBE2L3
1.000 0.080 22 21567397 intron variant G/A;C;T snv 2
rs10892279 1.000 0.120 11 118741072 intron variant G/A;T snv 0.25 3
rs148314165 0.925 0.160 6 137908902 intergenic variant T/- delins 2.0E-02 3
rs1800907 0.925 0.120 7 142800425 upstream gene variant T/C snv 0.56 3
rs4622308 0.925 0.160 12 56075401 upstream gene variant C/T snv 3
rs6848139 1.000 0.040 4 122473886 intergenic variant A/C;G snv 3
rs6960920 0.925 0.040 7 44376473 downstream gene variant G/C;T snv 0.37 3
rs715412 1.000 0.080 11 118813901 regulatory region variant G/A snv 0.17 3
rs150240657
AGBL2
0.925 0.120 11 47682026 missense variant G/A snv 8.7E-05 3.6E-04 3
rs121434256
AIRE
0.925 0.200 21 44287085 stop gained C/G;T snv 4.5E-05; 2.5E-05 3
rs147846074
AIRE
0.925 0.200 21 44289743 missense variant C/G;T snv 1.2E-05; 3.2E-05; 4.0E-06 3
rs734930
AUTS2
0.925 0.040 7 70555174 intron variant T/C snv 0.53 3