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: rs528302390
rs528302390
9 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs121434422
rs121434422
3 0.882 0.120 19 18869035 stop gained G/A;C;T snv 0.700 0
dbSNP: rs1554603293
rs1554603293
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs1324026337
rs1324026337
2 0.925 0.120 20 38148038 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1424438515
rs1424438515
F11
2 0.925 0.080 4 186274140 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs16999358
rs16999358
1 1.000 0.080 19 10162679 synonymous variant G/A snv 6.2E-03 2.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs16999593
rs16999593
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs2276598
rs2276598
1 1.000 0.080 2 25246633 synonymous variant C/T snv 0.19 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2276599
rs2276599
1 1.000 0.080 2 25247044 splice region variant C/T snv 0.71 0.69 0.010 1.000 1 2017 2017
dbSNP: rs61743125
rs61743125
3 0.882 0.080 6 42925677 missense variant G/A snv 2.0E-02 1.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2008 2008
dbSNP: rs752163489
rs752163489
2 0.925 0.120 22 37096044 stop gained C/A;T snv 1.8E-04 0.010 1.000 1 2002 2002
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs772953044
rs772953044
2 0.925 0.120 1 6333503 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2002 2002