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: rs137852678
rs137852678
STAT1
1 1.000 2 190978930 missense variant A/G snv 0.800 1.000 3 2003 2013
dbSNP: rs587776870
rs587776870
STAT1
1 1.000 2 190998247 missense variant C/A snv 0.800 0
dbSNP: rs387906758
rs387906758
STAT1
6 0.851 0.080 2 190995185 missense variant G/A;C snv 0.700 1.000 9 2011 2017
dbSNP: rs387906759
rs387906759
STAT1
4 0.851 0.080 2 190995205 missense variant G/A snv 0.700 1.000 7 2011 2016
dbSNP: rs587777630
rs587777630
STAT1
16 0.716 0.440 2 190986921 missense variant G/A snv 0.700 1.000 6 2012 2017
dbSNP: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs10808739
rs10808739
CYP7B1
6 0.882 8 64727703 intron variant G/A snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs1085307649
rs1085307649
STAT1
3 0.882 2 190995129 missense variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1329568
rs1329568 		6 0.882 0.120 9 37037979 upstream gene variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1553496850
rs1553496850
STAT1
3 0.882 2 190995139 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs3745760
rs3745760
BICRA
5 0.925 19 47702468 3 prime UTR variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs4878712
rs4878712
FRMPD1
5 0.925 9 37654260 intron variant G/A snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs7000921
rs7000921 		2 0.925 0.080 8 20535695 intergenic variant T/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs1559011859
rs1559011859
STAT1
3 0.882 2 190986913 missense variant T/G snv 0.700 0
dbSNP: rs587776713
rs587776713
STAT1
1 1.000 2 190978968 frameshift variant TC/- delins 0.700 0
dbSNP: rs587776714
rs587776714
STAT1
1 1.000 2 190976971 frameshift variant -/T delins 0.700 0