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: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs757075712
rs757075712
TFAM
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs61749397
rs61749397
VWF
9 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.020 1.000 2 2013 2018
dbSNP: rs104894809
rs104894809
GATA1
9 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121909675
rs121909675
GGCX
2 1.000 0.080 2 85553045 missense variant A/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121912713
rs121912713
SERPINA1
5 0.851 0.200 14 94378561 missense variant A/C snv 0.010 1.000 1 1992 1992
dbSNP: rs121965064
rs121965064
F11
3 0.925 0.080 4 186280258 missense variant T/C snv 1.1E-03 6.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs1252993409
rs1252993409
ADRA1A
1 8 26864323 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1339688889
rs1339688889
AAAS
1 12 53315733 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1482856709
rs1482856709
PROS1
3 0.925 0.080 3 93900887 missense variant G/A snv 0.010 1.000 1 1997 1997
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 1997 1997
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 2018 2018
dbSNP: rs34377097
rs34377097
TBXA2R
2 1.000 19 3600456 missense variant C/A snv 5.8E-05 2.1E-05 0.010 1.000 1 1994 1994
dbSNP: rs387906691
rs387906691
TBXA2R
2 1.000 19 3595810 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs387907201
rs387907201
F2
4 1.000 0.080 11 46739326 missense variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs483352867
rs483352867
STIM1
8 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs557043245
rs557043245
P2RY12 ; MED12L
1 3 151338482 missense variant G/A snv 4.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs575627531
rs575627531
ABCA1
2 1.000 0.120 9 104814211 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs61750610
rs61750610
VWF
3 0.925 0.080 12 6013630 missense variant G/T snv 0.010 1.000 1 2006 2006