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: rs145457535
rs145457535
6 0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 0.700 1.000 6 2012 2018
dbSNP: rs397515363
rs397515363
2 1.000 0.160 9 34459054 splice donor variant -/T delins 0.700 1.000 6 1999 2018
dbSNP: rs397515393
rs397515393
2 1.000 0.120 17 80039966 frameshift variant C/- del 4.4E-04 2.9E-04 0.700 1.000 6 2011 2016
dbSNP: rs138320978
rs138320978
3 0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 0.700 1.000 4 2013 2015
dbSNP: rs397515540
rs397515540
2 1.000 0.160 5 13753290 frameshift variant A/- del 1.6E-04 2.1E-04 0.700 1.000 4 2006 2014
dbSNP: rs548521732
rs548521732
2 1.000 0.160 5 13839530 splice acceptor variant T/C snv 4.0E-05 2.8E-05 0.700 1.000 4 2002 2016
dbSNP: rs575017579
rs575017579
1 5 13840968 stop gained G/A;C snv 2.8E-05; 8.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs756235547
rs756235547
1 3 180659582 splice acceptor variant T/C snv 1.2E-04 8.4E-05 0.700 1.000 4 2011 2013
dbSNP: rs1175443221
rs1175443221
1 7 21862024 splice donor variant G/A snv 0.700 1.000 3 2008 2012
dbSNP: rs1346603171
rs1346603171
1 17 80048762 splice donor variant G/A snv 4.4E-06 0.700 1.000 3 2011 2013
dbSNP: rs151107532
rs151107532
3 0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04 0.700 1.000 3 2013 2014
dbSNP: rs1554281038
rs1554281038
1 7 21787584 splice donor variant G/A snv 0.700 1.000 3 2008 2012
dbSNP: rs1568709952
rs1568709952
1 17 80084989 splice donor variant G/T snv 0.700 1.000 3 2011 2013
dbSNP: rs200901816
rs200901816
2 1.000 0.160 5 13701289 stop gained G/A snv 6.0E-05 6.3E-05 0.700 1.000 3 2006 2015
dbSNP: rs368260932
rs368260932
2 1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-05 0.700 1.000 3 2012 2015
dbSNP: rs370706991
rs370706991
2 1.000 0.120 17 80089763 splice acceptor variant G/A;T snv 4.0E-06; 3.6E-05 0.700 1.000 3 2011 2013
dbSNP: rs397515340
rs397515340
3 0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05 0.700 1.000 3 2009 2013
dbSNP: rs397515392
rs397515392
2 1.000 0.120 3 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05 0.700 1.000 3 2011 2013
dbSNP: rs571919972
rs571919972
2 1.000 0.160 5 13758881 stop gained G/A snv 5.2E-05 4.2E-05 0.700 1.000 3 2012 2014
dbSNP: rs587777499
rs587777499
3 0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins 0.700 1.000 3 2014 2016
dbSNP: rs587778822
rs587778822
2 1.000 0.120 3 180651496 frameshift variant T/- delins 1.4E-05 0.700 1.000 3 2011 2014
dbSNP: rs62638634
rs62638634
4 0.925 0.080 X 38322921 missense variant C/A snv 0.700 1.000 3 1997 2000
dbSNP: rs727504802
rs727504802
1 5 13770905 frameshift variant C/- delins 0.700 1.000 3 2002 2013
dbSNP: rs750708201
rs750708201
1 17 80050062 splice acceptor variant A/G snv 1.6E-05 7.0E-06 0.700 1.000 3 2011 2013
dbSNP: rs752924362
rs752924362
2 1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06 0.700 1.000 3 2013 2015