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: rs1057520020
rs1057520020
1 1.000 0.120 19 17834908 missense variant C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1064793347
rs1064793347
3 0.925 0.120 X 71107864 stop gained G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs118203993
rs118203993
2 0.925 0.120 12 121627018 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1384988139
rs1384988139
1 1.000 0.120 3 50330655 missense variant G/A;C snv 0.010 < 0.001 1 2004 2004
dbSNP: rs1555844617
rs1555844617
ADA
2 0.925 0.120 20 44625650 frameshift variant -/T delins 0.700 1.000 1 2011 2011
dbSNP: rs193921149
rs193921149
1 1.000 0.120 X 71110946 frameshift variant A/- delins 0.010 1.000 1 2009 2009
dbSNP: rs28936072
rs28936072
4 0.851 0.200 X 154765472 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1555743321
rs1555743321
1 1.000 0.120 19 17831775 frameshift variant TGACCAGCCGCAGGCTCTGGCG/- del 0.700 0
dbSNP: rs1555908409
rs1555908409
7 0.851 0.160 22 37232842 missense variant C/T snv 0.700 0
dbSNP: rs1561424886
rs1561424886
1 1.000 0.120 5 35874447 splice acceptor variant A/G snv 0.700 0
dbSNP: rs193922348
rs193922348
2 1.000 0.120 X 71110295 missense variant A/C;G snv 0.700 0
dbSNP: rs193922361
rs193922361
2 0.925 0.120 19 17837171 missense variant G/A snv 0.700 0
dbSNP: rs193922640
rs193922640
1 1.000 0.120 5 35867354 frameshift variant -/ATATATTTCA delins 0.700 0
dbSNP: rs193922643
rs193922643
1 1.000 0.120 5 35873558 stop gained CG/TA mnv 0.700 0
dbSNP: rs193922645
rs193922645
1 1.000 0.120 5 35873586 missense variant G/T snv 0.700 0
dbSNP: rs193922647
rs193922647
1 1.000 0.120 5 35875988 stop lost A/C snv 0.700 0
dbSNP: rs672601318
rs672601318
1 1.000 0.120 1 167518464 start lost A/G snv 0.700 0
dbSNP: rs3218716
rs3218716
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
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: 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: rs193922575
rs193922575
1 1.000 0.120 11 36593841 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1264564157
rs1264564157
1 1.000 0.120 2 97737814 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
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: rs148508754
rs148508754
4 0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.700 0