Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 18
rs1114167422
SNORA56 ; DKC1
0.776 0.320 X 154773148 missense variant A/G snv 11
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 9
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 8
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv 7
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 7
rs1052954321
ALPK1
0.882 4 112427580 missense variant C/T snv 6
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs1555366607
SPTB
1.000 0.080 14 64767787 missense variant A/G snv 5
rs756881285
ADA2
0.882 0.160 22 17209534 frameshift variant C/-;CC delins 4
rs878853320
GBA
1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06 3
rs878853321
GBA
0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06 3
rs41469945
HBA2
0.925 0.080 16 173581 missense variant T/C;G snv 3
rs770418305
NEK4
1.000 0.040 3 52741486 frameshift variant -/T delins 2.4E-05 1.4E-05 3
rs878853317
GBA
1.000 0.120 1 155235241 missense variant C/T snv 2
rs1554851718
FAS
10 89010783 missense variant T/G snv 1