Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1301592633
CASP8
2 201285251 missense variant G/A snv 7.0E-06 1
rs774709145
JAK2 ; INSL6
9 5080657 missense variant G/A;C snv 1.3E-05 1
rs752661478
JAK3
19 17838299 missense variant C/T snv 1
rs372338890
KLF6
10 3781778 missense variant G/A snv 6.0E-05 1.4E-05 1
rs17041869
MIR4435-2HG ; BCL2L11
2 111138666 intron variant A/G snv 0.11 1
rs15561
NAT1
8 18223142 3 prime UTR variant A/C snv 0.64 1
rs759151952
PMS2
0.925 0.200 7 5987265 frameshift variant G/-;GG delins 7.0E-06 1
rs7632505
SEMA5B
0.827 0.120 3 123019460 intron variant A/G snv 0.34 1
rs1478161644
WDHD1
14 55008696 missense variant T/C snv 1
rs17432750 5 56735995 regulatory region variant C/A snv 0.13 2
rs4912474 3 184148698 upstream gene variant C/A snv 0.35 2
rs562338 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 2
rs62355900 1.000 0.040 5 56756868 regulatory region variant T/C snv 0.15 2
rs6993464 8 119532708 intergenic variant C/A;T snv 2
rs74345699 5 56757652 intergenic variant C/A;T snv 2
rs895919 11 132360808 regulatory region variant T/C snv 0.38 2
rs9257445 6 28981429 upstream gene variant G/C snv 0.34 2
rs1204442125
ADAM17
2 9527876 missense variant G/A snv 2
rs560209396
ADAM9 ; TM2D2
8 38996229 missense variant T/C snv 8.0E-06 2
rs3737482
ADH7
4 99428309 intron variant T/C snv 1.0E-02 2
rs2498794
AKT1
14 104778914 intron variant A/G snv 0.54 2
rs1171303257
ALB
4 73410405 missense variant G/C snv 4.0E-06 2
rs1057519859
ALK
1.000 0.120 2 29222392 missense variant C/T snv 2
rs55674018
ALPK2
18 58524007 missense variant G/C snv 5.1E-04 1.1E-04 2
rs3735400
ANLN
7 36399100 missense variant C/G;T snv 0.13 2