Gene: JAK3 ×
Source: ALL
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: rs1057520020
rs1057520020
JAK3
1 1.000 0.120 19 17834908 missense variant C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1555743321
rs1555743321
JAK3
1 1.000 0.120 19 17831775 frameshift variant TGACCAGCCGCAGGCTCTGGCG/- del 0.700 0
dbSNP: rs193922361
rs193922361
JAK3
2 0.925 0.120 19 17837171 missense variant G/A snv 0.700 0
dbSNP: rs193922362
rs193922362
JAK3
1 1.000 0.120 19 17837148 synonymous variant G/A snv 5.8E-06 0.700 0
dbSNP: rs193922364
rs193922364
JAK3
1 1.000 0.120 19 17842498 frameshift variant AG/- del 4.7E-06 0.700 0
dbSNP: rs137852624
rs137852624
JAK3
3 0.882 0.120 19 17843786 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999