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: rs1060501989
rs1060501989
1 2 47410115 stop gained C/T snv 0.700 0
dbSNP: rs1060501993
rs1060501993
1 2 47403404 splice donor variant T/C snv 0.700 0
dbSNP: rs1060501994
rs1060501994
1 2 47429776 stop gained G/A;C;T snv 0.700 0
dbSNP: rs1060502000
rs1060502000
1 2 47403278 frameshift variant GCCG/- del 0.700 0
dbSNP: rs1060502001
rs1060502001
1 2 47403276 stop gained A/T snv 0.700 0
dbSNP: rs1060502023
rs1060502023
2 2 47463156 splice donor variant T/C snv 0.700 0
dbSNP: rs1060502027
rs1060502027
1 2 47463048 frameshift variant C/- delins 0.700 0
dbSNP: rs1060502029
rs1060502029
1 2 47463114 frameshift variant GAAG/AAA delins 0.700 0
dbSNP: rs1060502032
rs1060502032
1 2 47476522 stop gained G/T snv 0.700 0
dbSNP: rs1060502035
rs1060502035
1 2 47445574 frameshift variant -/T;TT delins 0.700 0
dbSNP: rs1064792951
rs1064792951
1 2 47482781 frameshift variant TGAAAAAATTATTCAGG/- delins 0.700 0
dbSNP: rs1064793561
rs1064793561
2 2 47466710 frameshift variant ACTT/- delins 0.700 0
dbSNP: rs1064794155
rs1064794155
2 2 47412560 splice donor variant G/- delins 0.700 0
dbSNP: rs1114167805
rs1114167805
2 2 47475233 frameshift variant C/- del 0.700 0
dbSNP: rs1114167831
rs1114167831
2 2 47408551 frameshift variant A/- del 0.700 0
dbSNP: rs1114167833
rs1114167833
2 2 47445555 frameshift variant C/- delins 0.700 0
dbSNP: rs1114167877
rs1114167877
2 2 47410251 frameshift variant GTGTGAAT/- delins 0.700 0
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: rs1553348904
rs1553348904
1 2 47403396 frameshift variant C/- delins 0.700 0
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