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: rs111033618
rs111033618
IL2RG
4 0.925 0.120 X 71109321 missense variant G/A snv 0.810 1.000 3 1995 2018
dbSNP: rs111033617
rs111033617
IL2RG ; CXorf65
1 X 71108599 missense variant C/T snv 0.800 1.000 11 1993 1997
dbSNP: rs111033620
rs111033620
IL2RG
1 X 71110617 missense variant C/T snv 0.800 1.000 11 1993 1997
dbSNP: rs111033621
rs111033621
IL2RG
1 X 71110292 missense variant A/T snv 0.800 1.000 11 1993 1997
dbSNP: rs111033622
rs111033622
IL2RG
2 1.000 0.200 X 71110615 missense variant A/G snv 0.800 1.000 11 1993 1997
dbSNP: rs137852510
rs137852510
IL2RG ; CXorf65
1 X 71108323 stop lost A/G;T snv 5.5E-06 0.800 1.000 2 1995 1997
dbSNP: rs1057521062
rs1057521062
IL2RG
1 X 71110283 missense variant G/A snv 0.710 1.000 1 1999 1999
dbSNP: rs869320659
rs869320659
IL2RG
1 X 71109309 missense variant G/A snv 0.700 1.000 11 1990 2017
dbSNP: rs869320660
rs869320660
IL2RG
1 X 71109308 missense variant C/T snv 0.700 1.000 6 1997 2011
dbSNP: rs1057520644
rs1057520644
IL2RG
2 1.000 0.040 X 71110964 missense variant C/T snv 0.700 1.000 3 1994 2015
dbSNP: rs1556329822
rs1556329822
IL2RG ; CXorf65
1 X 71108347 splice acceptor variant C/T snv 0.700 1.000 2 1997 2000
dbSNP: rs886042051
rs886042051
IL2RG ; CXorf65
1 X 71108696 splice acceptor variant C/T snv 0.700 1.000 2 1997 2000
dbSNP: rs1556330568
rs1556330568
IL2RG
1 X 71110228 stop gained C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs1064793347
rs1064793347
IL2RG ; CXorf65
3 0.925 0.120 X 71107864 stop gained G/A snv 0.700 0
dbSNP: rs111033619
rs111033619
IL2RG
1 X 71110980 stop gained A/T snv 0.700 0
dbSNP: rs137852507
rs137852507
IL2RG
1 X 71110603 stop gained T/A;G snv 5.5E-06 0.700 0
dbSNP: rs137852508
rs137852508
IL2RG ; CXorf65
1 X 71108336 stop gained G/A snv 0.700 0
dbSNP: rs137852509
rs137852509
IL2RG ; CXorf65
1 X 71108278 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs137852511
rs137852511
IL2RG
1 X 71110506 missense variant A/G snv 0.700 0
dbSNP: rs1556329779
rs1556329779
IL2RG ; CXorf65
1 X 71108291 frameshift variant GTATTCAG/- delins 0.700 0
dbSNP: rs1556330234
rs1556330234
IL2RG
1 X 71109265 stop gained C/T snv 0.700 0
dbSNP: rs1556330286
rs1556330286
IL2RG
1 X 71109383 stop gained G/C snv 0.700 0
dbSNP: rs1556330552
rs1556330552
IL2RG
1 X 71110188 stop gained G/A snv 0.700 0
dbSNP: rs1556330562
rs1556330562
IL2RG
1 X 71110202 frameshift variant A/- delins 0.700 0
dbSNP: rs1556330713
rs1556330713
IL2RG
1 X 71110537 stop gained G/A snv 0.700 0