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: rs137852624
rs137852624
JAK3
3 0.882 0.120 19 17843786 missense variant T/C snv 4.0E-06 0.700 1.000 5 1995 2004
dbSNP: rs147181709
rs147181709
JAK3
1 1.000 0.120 19 17843086 missense variant G/T snv 4.1E-06 0.700 1.000 5 1995 2004
dbSNP: rs55778349
rs55778349
JAK3
1 1.000 0.120 19 17843141 missense variant G/C snv 5.9E-03 6.4E-03 0.700 1.000 5 1995 2004
dbSNP: rs193922361
rs193922361
JAK3
2 0.925 0.120 19 17837171 missense variant G/A snv 0.700 0
dbSNP: rs886039394
rs886039394
JAK3
1 1.000 0.120 19 17837150 missense variant C/T snv 0.700 0