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: rs758995
rs758995
1 1.000 0.040 7 31064948 intron variant G/A snv 0.12 0.17 0.010 1.000 1 2013 2013
dbSNP: rs80356779
rs80356779
10 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs8192597
rs8192597
1 1.000 0.040 18 907674 synonymous variant G/A snv 0.73 0.67 0.010 1.000 1 2013 2013
dbSNP: rs9951307
rs9951307
5 0.882 0.120 18 26850565 intron variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs199473097
rs199473097
9 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs757532106
rs757532106
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 0
dbSNP: rs794728448
rs794728448
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2010 2010
dbSNP: rs10081254
rs10081254
1 1.000 0.040 7 31082056 intron variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs137854610
rs137854610
2 0.925 0.120 3 38550895 missense variant C/T snv 2.8E-05 1.7E-04 0.010 1.000 1 2001 2001
dbSNP: rs149344567
rs149344567
2 0.925 0.120 1 111776247 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs368660364
rs368660364
1 1.000 0.040 20 33408748 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2011 2011
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs786205867
rs786205867
3 0.882 0.080 1 111787039 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs147316959
rs147316959
1 1.000 0.040 12 21765962 missense variant C/T snv 9.9E-05 3.1E-04 0.700 0
dbSNP: rs199473190
rs199473190
1 1.000 0.040 3 38579474 missense variant C/G;T snv 8.2E-06 0.700 1.000 3 2008 2011
dbSNP: rs17375748
rs17375748
1 1.000 0.040 1 160040361 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1801030
rs1801030
1 1.000 0.040 16 28606164 missense variant C/G;T snv 8.1E-06; 0.98 0.010 1.000 1 2015 2015
dbSNP: rs116840776
rs116840776
2 1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs1318358361
rs1318358361
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs137854609
rs137854609
3 0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs72878794
rs72878794
1 1.000 0.040 18 26866839 intron variant C/A;T snv 8.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs45546039
rs45546039
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs72546668
rs72546668
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0