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: rs1060499780
rs1060499780
ADAMTS13
1 1.000 0.080 9 133455576 frameshift variant G/- delins 0.700 0
dbSNP: rs11575933
rs11575933
ADAMTS13
3 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 0.700 0
dbSNP: rs121908467
rs121908467
ADAMTS13
1 1.000 0.080 9 133424434 missense variant C/G snv 0.800 1.000 20 2001 2011
dbSNP: rs121908468
rs121908468
ADAMTS13
1 1.000 0.080 9 133448718 missense variant T/G snv 7.0E-06 0.800 1.000 20 2001 2011
dbSNP: rs121908469
rs121908469
ADAMTS13
1 1.000 0.080 9 133424452 missense variant C/A;T snv 4.0E-06; 8.0E-06 2.1E-05 0.800 1.000 20 2001 2011
dbSNP: rs121908470
rs121908470
ADAMTS13
1 1.000 0.080 9 133426246 missense variant C/T snv 8.0E-06 2.8E-05 0.810 1.000 20 2001 2011
dbSNP: rs121908471
rs121908471
ADAMTS13
1 1.000 0.080 9 133433478 missense variant G/A snv 0.800 1.000 20 2001 2011
dbSNP: rs121908472
rs121908472
ADAMTS13
1 1.000 0.080 9 133454440 missense variant T/G snv 3.2E-05 1.2E-04 0.800 1.000 20 2001 2011
dbSNP: rs121908473
rs121908473
ADAMTS13
1 1.000 0.080 9 133437895 missense variant A/G snv 4.0E-06 0.800 1.000 20 2001 2011
dbSNP: rs121908474
rs121908474
ADAMTS13
1 1.000 0.080 9 133456138 missense variant G/A snv 7.0E-06 0.800 1.000 20 2001 2011
dbSNP: rs121908475
rs121908475
ADAMTS13
1 1.000 0.080 9 133442504 missense variant C/T snv 4.0E-06 2.1E-05 0.810 1.000 21 2001 2011
dbSNP: rs121908476
rs121908476
ADAMTS13
1 1.000 0.080 9 133436865 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs121908477
rs121908477
ADAMTS13
1 1.000 0.080 9 133428750 missense variant G/C;T snv 0.800 1.000 20 2001 2011
dbSNP: rs121908478
rs121908478
ADAMTS13
1 1.000 0.080 9 133428696 missense variant C/T snv 0.800 1.000 20 2001 2011
dbSNP: rs138014548
rs138014548
ADAMTS13
1 1.000 0.080 9 133442676 missense variant C/A snv 9.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs142572218
rs142572218
ADAMTS13
2 0.925 0.080 9 133454548 missense variant C/A;T snv 8.3E-04 0.810 1.000 23 2001 2018
dbSNP: rs148312697
rs148312697
ADAMTS13
2 0.925 0.080 9 133426218 missense variant G/C snv 4.7E-04 4.3E-04 0.710 1.000 7 2009 2016
dbSNP: rs1554789680
rs1554789680
ADAMTS13
1 1.000 0.080 9 133438245 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1554797078
rs1554797078
ADAMTS13 ; CACFD1
1 1.000 0.080 9 133458996 inframe deletion ACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAGTCAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGCCTGCGGGGCCAGTACTGGACC/- delins 0.700 0
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: rs281875285
rs281875285
ADAMTS13
1 1.000 0.080 9 133430025 missense variant A/G;T snv 4.6E-06 0.700 1.000 20 2001 2011
dbSNP: rs281875286
rs281875286
ADAMTS13
1 1.000 0.080 9 133437887 missense variant G/A snv 0.700 1.000 20 2001 2011
dbSNP: rs281875287
rs281875287
ADAMTS13
1 1.000 0.080 9 133426236 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 20 2001 2011
dbSNP: rs281875288
rs281875288
ADAMTS13
1 1.000 0.080 9 133432645 missense variant C/A;T snv 1.2E-05; 5.9E-06 0.710 1.000 21 2001 2011