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: rs672601318
rs672601318
1 1.000 0.120 1 167518464 start lost A/G snv 0.700 0
dbSNP: rs74315329
rs74315329
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
dbSNP: rs104893894
rs104893894
2 0.925 0.120 5 35871070 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs104894287
rs104894287
5 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 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: 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: 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: rs121917894
rs121917894
5 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121918572
rs121918572
4 0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009
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: 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: rs137852624
rs137852624
3 0.882 0.120 19 17843786 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1384988139
rs1384988139
1 1.000 0.120 3 50330655 missense variant G/A;C snv 0.010 < 0.001 1 2004 2004
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
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: rs750917798
rs750917798
1 1.000 0.120 3 50331718 missense variant G/A snv 8.0E-06 1.4E-05 0.010 < 0.001 1 2004 2004
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: rs898332991
rs898332991
1 1.000 0.120 3 50331652 missense variant G/A snv 4.0E-06 4.2E-05 0.010 < 0.001 1 2004 2004