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: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs142572218
rs142572218
ADAMTS13
2 0.925 0.080 9 133454548 missense variant C/A;T snv 8.3E-04 0.030 1.000 3 2008 2018
dbSNP: rs11575933
rs11575933
ADAMTS13
3 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs148312697
rs148312697
ADAMTS13
2 0.925 0.080 9 133426218 missense variant G/C snv 4.7E-04 4.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs216321
rs216321
VWF
1 1.000 0.080 12 6034818 missense variant T/C snv 0.90 0.92 0.010 1.000 1 1999 1999
dbSNP: rs2301612
rs2301612
ADAMTS13
2 0.925 0.120 9 133436862 missense variant C/A;G snv 0.38 0.32 0.010 1.000 1 2006 2006
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
dbSNP: rs281875296
rs281875296
ADAMTS13
2 0.925 0.080 9 133437833 missense variant G/A snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs281875299
rs281875299
ADAMTS13
2 0.925 0.080 9 133440344 missense variant C/T snv 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs281875308
rs281875308
ADAMTS13 ; CACFD1
2 0.925 0.080 9 133458023 missense variant C/G;T snv 4.0E-06; 1.2E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs28647808
rs28647808
ADAMTS13
4 0.882 0.160 9 133440409 missense variant C/G snv 6.1E-02 5.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs41314453
rs41314453
ADAMTS13
2 1.000 0.080 9 133442704 missense variant C/T snv 9.8E-03 9.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs6903608
rs6903608
HLA-DRB9
11 0.742 0.400 6 32460508 intron variant C/G;T snv 0.010 1.000 1 2016 2016