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: rs770418305
rs770418305
3 1.000 0.040 3 52741486 frameshift variant -/T delins 2.4E-05 1.4E-05 0.700 0
dbSNP: rs878853320
rs878853320
GBA
3 1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs113993993
rs113993993
9 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
dbSNP: rs1114167422
rs1114167422
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs1555366607
rs1555366607
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs1564691414
rs1564691414
FAS
7 0.925 0.160 10 89007698 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1567705064
rs1567705064
8 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
dbSNP: rs756881285
rs756881285
4 0.882 0.160 22 17209534 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs878853321
rs878853321
GBA
3 0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs1052954321
rs1052954321
6 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs878853317
rs878853317
GBA
2 1.000 0.120 1 155235241 missense variant C/T snv 0.700 0
dbSNP: rs148636776
rs148636776
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 0
dbSNP: rs878853315
rs878853315
GBA
5 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
dbSNP: rs120074160
rs120074160
7 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
dbSNP: rs1565679039
rs1565679039
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs41469945
rs41469945
3 0.925 0.080 16 173581 missense variant T/C;G snv 0.700 0
dbSNP: rs1554851718
rs1554851718
FAS
1 10 89010783 missense variant T/G snv 0.700 0