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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 1.000 9 1999 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 1999 2020
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.090 1.000 9 1999 2018
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.070 1.000 7 2000 2018
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.030 1.000 3 1999 2008
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2018 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2010 2013
dbSNP: rs6050
rs6050
FGA
10 0.827 0.120 4 154586438 missense variant T/A;C snv 0.29 0.020 1.000 2 2012 2016
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 1.000 2 2005 2014
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2009 2015
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2006 2010
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2019 2019
dbSNP: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1203757587
rs1203757587
1 1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121909613
rs121909613
FGA
5 0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121918156
rs121918156
3 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1248438558
rs1248438558
F10
2 0.925 0.120 13 113149020 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs13306190
rs13306190
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1396452003
rs1396452003
2 0.925 0.120 3 93879173 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1553424043
rs1553424043
3 0.925 0.120 2 127423123 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3138521
rs3138521
1 1.000 0.040 1 173917605 upstream gene variant CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT delins 0.010 1.000 1 2017 2017
dbSNP: rs4149584
rs4149584
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2005 2005