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: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2017 2017
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2017 2017
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
dbSNP: rs778036161
rs778036161
RUNX1T1
9 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs8177832
rs8177832
APOBEC3G
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.010 1.000 1 2018 2018