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: rs121908735
rs121908735
ADA
3 0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05 0.700 1.000 3 1998 2015
dbSNP: rs121908726
rs121908726
ADA
4 0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs121908727
rs121908727
ADA
4 0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05 0.010 1.000 1 1995 1995
dbSNP: rs1359688726
rs1359688726
ADA
1 1.000 0.120 20 44626514 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1555844617
rs1555844617
ADA
2 0.925 0.120 20 44625650 frameshift variant -/T delins 0.700 1.000 1 2011 2011
dbSNP: rs780014431
rs780014431
ADA
2 0.925 0.120 20 44625623 stop gained G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs121908721
rs121908721
ADA ; PKIG
3 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.710 1.000 1 2019 2019
dbSNP: rs121908723
rs121908723
ADA ; PKIG
4 0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs751635016
rs751635016
ADA ; PKIG
1 1.000 0.120 20 44622588 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs672601318
rs672601318
CD247
1 1.000 0.120 1 167518464 start lost A/G snv 0.700 0
dbSNP: rs28936072
rs28936072
DKC1
4 0.851 0.200 X 154765472 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1450116153
rs1450116153
GHR
2 1.000 0.120 5 42711220 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs193921149
rs193921149
IL2RG
1 1.000 0.120 X 71110946 frameshift variant A/- delins 0.010 1.000 1 2009 2009
dbSNP: rs193922348
rs193922348
IL2RG
2 1.000 0.120 X 71110295 missense variant A/C;G snv 0.700 0
dbSNP: rs1064793347
rs1064793347
IL2RG ; CXorf65
3 0.925 0.120 X 71107864 stop gained G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs104893894
rs104893894
IL7R
2 0.925 0.120 5 35871070 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1561424886
rs1561424886
IL7R
1 1.000 0.120 5 35874447 splice acceptor variant A/G snv 0.700 0
dbSNP: rs193922640
rs193922640
IL7R
1 1.000 0.120 5 35867354 frameshift variant -/ATATATTTCA delins 0.700 0
dbSNP: rs193922641
rs193922641
IL7R
3 0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs193922642
rs193922642
IL7R
1 1.000 0.120 5 35873481 missense variant A/C;G snv 4.8E-05 0.700 0
dbSNP: rs193922643
rs193922643
IL7R
1 1.000 0.120 5 35873558 stop gained CG/TA mnv 0.700 0
dbSNP: rs193922645
rs193922645
IL7R
1 1.000 0.120 5 35873586 missense variant G/T snv 0.700 0
dbSNP: rs193922647
rs193922647
IL7R
1 1.000 0.120 5 35875988 stop lost A/C snv 0.700 0
dbSNP: rs1057520020
rs1057520020
JAK3
1 1.000 0.120 19 17834908 missense variant C/T snv 0.700 1.000 1 2008 2008
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