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: rs909612975
rs909612975
1 1.000 0.120 4 5793606 splice acceptor variant A/G snv 6.4E-06 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs896581899
rs896581899
1 1.000 0.120 4 5810377 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs794726666
rs794726666
1 1.000 0.120 4 5804736 frameshift variant G/- delins 0.700 0
dbSNP: rs794726665
rs794726665
2 0.925 0.120 4 5793722 splice region variant G/A;T snv 6.5E-06; 6.5E-06 0.700 1.000 3 2000 2013
dbSNP: rs779915989
rs779915989
1 1.000 0.120 4 5748268 stop gained G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs779275317
rs779275317
1 1.000 0.120 4 5797013 splice acceptor variant CAAAGGTCCACGCGGTGTGTCCT/- delins 1.5E-04 0.700 0
dbSNP: rs773019082
rs773019082
1 1.000 0.120 4 5798585 splice acceptor variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs765269619
rs765269619
1 1.000 0.120 4 5783656 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs764397417
rs764397417
1 1.000 0.120 4 5783666 stop gained G/T snv 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs760607210
rs760607210
1 1.000 0.120 4 5753840 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs759106605
rs759106605
1 1.000 0.120 4 5756337 frameshift variant C/- delins 0.700 0
dbSNP: rs753014919
rs753014919
2 0.925 0.160 4 5783682 frameshift variant C/- del 1.2E-04 0.700 1.000 2 2007 2013
dbSNP: rs751772225
rs751772225
1 1.000 0.120 4 5783672 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs35953626
rs35953626
1 1.000 0.120 4 5753797 missense variant G/A snv 1.8E-02 7.1E-02 0.700 1.000 3 2000 2010
dbSNP: rs1560340993
rs1560340993
2 0.925 0.160 4 5753048 frameshift variant C/- delins 0.700 0
dbSNP: rs1553895776
rs1553895776
1 1.000 0.120 4 5808328 splice donor variant G/C snv 0.700 0
dbSNP: rs1553895755
rs1553895755
1 1.000 0.120 4 5808305 frameshift variant C/- delins 0.700 0
dbSNP: rs1553894457
rs1553894457
1 1.000 0.120 4 5804842 splice donor variant G/A snv 0.700 0
dbSNP: rs1553893423
rs1553893423
1 1.000 0.120 4 5802095 splice donor variant G/A snv 0.700 0
dbSNP: rs1553892090
rs1553892090
1 1.000 0.120 4 5798794 splice donor variant T/C snv 0.700 0
dbSNP: rs1553891936
rs1553891936
1 1.000 0.120 4 5798652 stop gained C/T snv 0.700 0
dbSNP: rs1553891368
rs1553891368
1 1.000 0.120 4 5797233 splice donor variant G/T snv 0.700 0
dbSNP: rs1553889992
rs1553889992
1 1.000 0.120 4 5793644 stop gained C/T snv 0.700 1.000 2 2007 2010
dbSNP: rs1553886849
rs1553886849
1 1.000 0.120 4 5783550 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1553876870
rs1553876870
1 1.000 0.120 4 5756352 frameshift variant -/A delins 0.700 0