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: rs1553348794
rs1553348794
1 2 47403305 frameshift variant C/- delins 0.700 0
dbSNP: rs1553348842
rs1553348842
1 2 47403343 frameshift variant -/G delins 0.700 0
dbSNP: rs1553348882
rs1553348882
2 2 47403373 frameshift variant A/- del 0.700 0
dbSNP: rs1553348896
rs1553348896
2 2 47403382 frameshift variant -/C delins 0.700 0
dbSNP: rs1553348898
rs1553348898
1 2 47403384 frameshift variant -/TC ins 0.700 0
dbSNP: rs1553348901
rs1553348901
1 2 47403392 splice donor variant GGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCC/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1553348904
rs1553348904
1 2 47403396 frameshift variant C/- delins 0.700 0
dbSNP: rs1553350167
rs1553350167
1 2 47408481 stop gained TA/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1553350466
rs1553350466
1 2 47409568 splice acceptor variant GGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGT/- delins 0.700 0
dbSNP: rs1553350680
rs1553350680
2 2 47410146 frameshift variant AT/- delins 0.700 0
dbSNP: rs1553350758
rs1553350758
1 2 47410202 frameshift variant A/- del 0.700 0
dbSNP: rs1553350787
rs1553350787
1 2 47410236 frameshift variant -/G delins 0.700 0
dbSNP: rs1553350966
rs1553350966
1 2 47410355 frameshift variant AT/- del 0.700 0
dbSNP: rs1553352505
rs1553352505
1 2 47414351 frameshift variant -/T delins 0.700 0
dbSNP: rs1553353114
rs1553353114
1 2 47416312 frameshift variant ACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCC/- delins 0.700 0
dbSNP: rs1553356700
rs1553356700
1 2 47429892 frameshift variant G/- delins 0.700 0
dbSNP: rs1553361231
rs1553361231
1 2 47445610 frameshift variant TT/- del 0.700 0
dbSNP: rs1553361289
rs1553361289
1 2 47445642 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1553365711
rs1553365711
2 1.000 0.160 2 47463044 frameshift variant A/- delins 0.700 0
dbSNP: rs1553365719
rs1553365719
1 2 47463054 frameshift variant A/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1553365799
rs1553365799
1 2 47463122 frameshift variant A/- del 0.700 0
dbSNP: rs1553366510
rs1553366510
2 1.000 0.160 2 47466665 frameshift variant C/- delins 0.700 0
dbSNP: rs1553366680
rs1553366680
1 2 47466810 splice donor variant T/C snv 0.700 1.000 2 2005 2014
dbSNP: rs1553369100
rs1553369100
1 2 47476445 frameshift variant -/G delins 0.700 0
dbSNP: rs1553369131
rs1553369131
1 2 47476476 frameshift variant G/- delins 0.700 0