Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2732875
SHROOM2
0.790 0.080 X 9795858 intron variant C/G;T snv 9
rs5934683
GPR143
0.790 0.080 X 9783434 intron variant T/C snv 0.50 9
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 9
rs5753618
EIF4ENIF1 ; DRG1
0.790 0.080 22 31442532 intron variant C/T snv 0.20 9
rs1390282714
MAPK1
0.925 0.080 22 21769233 missense variant C/A;T snv 4.0E-06; 4.0E-06 2
rs1425164489
TCN2
0.925 0.080 22 30617374 missense variant A/G;T snv 4.0E-06 2
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs11907546 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 17
rs2300206
RALY
0.708 0.280 20 34002002 intron variant G/C;T snv 17
rs961253 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 15
rs4925386
LAMA5
0.776 0.080 20 62345988 intron variant T/C snv 0.56 14
rs6058093
PIGU
0.776 0.080 20 34625392 intron variant A/C snv 0.55 12
rs6068816
CYP24A1
0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02 12
rs2179593
TOX2
0.790 0.080 20 44031646 intron variant C/A snv 0.71 11
rs2585428
CYP24A1
0.763 0.200 20 54170358 intron variant C/T snv 0.46 11
rs2738783
RTEL1 ; RTEL1-TNFRSF6B
0.763 0.160 20 63677259 intron variant T/G snv 0.85 11
rs4813802 0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28 11
rs6063514 0.776 0.080 20 50438781 intergenic variant C/T snv 0.42 11
rs11087784 0.776 0.080 20 7760329 intergenic variant A/G snv 0.13 10
rs1741640
LAMA5
0.776 0.080 20 62357358 intron variant T/C snv 0.66 10
rs189583 0.776 0.080 20 6395810 regulatory region variant G/C;T snv 10
rs2423279 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 10
rs2427308
CABLES2
0.790 0.080 20 62394395 intron variant C/T snv 0.22 10