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: rs1555313219
rs1555313219
2 1.000 14 21393500 stop gained C/A;T snv 0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1057518651
rs1057518651
1 1.000 14 21408756 missense variant G/A snv 0.700 0
dbSNP: rs1131691627
rs1131691627
1 1.000 14 21393692 stop gained G/A snv 0.700 0
dbSNP: rs1135401763
rs1135401763
2 1.000 14 21431297 frameshift variant G/- del 0.700 0
dbSNP: rs1331026006
rs1331026006
1 1.000 14 21431459 stop gained G/A;C snv 0.700 0
dbSNP: rs1454466097
rs1454466097
1 1.000 14 21400605 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1555314317
rs1555314317
1 1.000 14 21400267 frameshift variant T/- delins 0.700 0
dbSNP: rs1555314788
rs1555314788
1 1.000 14 21402494 stop gained G/A snv 0.700 0
dbSNP: rs1566427770
rs1566427770
1 1.000 14 21408477 frameshift variant A/- del 0.700 0
dbSNP: rs397514551
rs397514551
1 1.000 14 21403019 stop gained G/A snv 0.700 0
dbSNP: rs397514552
rs397514552
1 1.000 14 21402010 stop gained G/A snv 0.700 0
dbSNP: rs776631057
rs776631057
1 1.000 14 21409898 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs781575717
rs781575717
1 1.000 14 21392760 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs863224857
rs863224857
1 1.000 14 21415880 stop gained G/A snv 0.700 0
dbSNP: rs996150988
rs996150988
1 1.000 14 21409985 missense variant C/G;T snv 4.0E-06 1.4E-05 0.700 0