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: rs1553657378
rs1553657378
CTLA4
1 1.000 0.040 2 203870594 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1553657387
rs1553657387
CTLA4
1 1.000 0.040 2 203870636 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1357409506
rs1357409506
CTLA4
1 1.000 0.040 2 203870896 stop gained C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1553657430
rs1553657430
CTLA4
1 1.000 0.040 2 203870888 missense variant C/A snv 0.700 0
dbSNP: rs606231422
rs606231422
CTLA4
1 1.000 0.040 2 203870684 missense variant C/T snv 0.700 0
dbSNP: rs1467075214
rs1467075214
JAK3
1 1.000 0.040 19 17842599 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs200077579
rs200077579
JAK3
1 1.000 0.040 19 17832681 missense variant G/A snv 2.2E-04 2.5E-04 0.010 1.000 1 2017 2017