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: 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: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
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: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2005 2010
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