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: rs75184679
rs75184679
RNASEH2B
16 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 1.000 11 2006 2016
dbSNP: rs138603088
rs138603088
SAMHD1
3 0.882 0.120 20 36930783 missense variant A/T snv 2.4E-05 2.1E-05 0.700 1.000 7 2009 2018
dbSNP: rs77103971
rs77103971
RNASEH2A ; HOOK2
2 0.925 0.120 19 12810323 missense variant C/T snv 4.0E-06 2.8E-05 0.700 1.000 4 2007 2013
dbSNP: rs145588689
rs145588689
ADAR
4 0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.030 1.000 3 2008 2012
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.030 1.000 3 2008 2017
dbSNP: rs78635798
rs78635798
RNASEH2C
3 0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05 0.030 1.000 3 2009 2018
dbSNP: rs267607027
rs267607027
SAMHD1
3 0.925 0.120 20 36935048 stop gained G/A snv 4.0E-06 7.0E-06 0.020 0.500 2 2010 2011
dbSNP: rs78846775
rs78846775
TREX1 ; ATRIP ; ATRIP-TREX1
5 0.827 0.240 3 48467253 missense variant G/A;T snv 0.020 1.000 2 2008 2014
dbSNP: rs121434516
rs121434516
SAMHD1
2 0.925 0.120 20 36930760 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs74555752
rs74555752
RNASEH2B
2 0.925 0.120 13 50945470 missense variant T/G snv 0.010 1.000 1 2017 2017