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: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs128621195
rs128621195
BTK
2 1.000 0.120 X 101358672 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs2227513
rs2227513
IL22 ; LOC105369818
3 1.000 0.080 12 68253559 intron variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs61732239
rs61732239
ADA
2 1.000 0.120 20 44625622 missense variant C/G;T snv 1.0E-03 0.010 1.000 1 2000 2000
dbSNP: rs746540053
rs746540053
CD34 ; LOC107985253
2 1.000 0.040 1 207911034 missense variant C/T snv 0.010 1.000 1 2011 2011