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: rs1568318932
rs1568318932
2 0.925 0.240 19 13075673 splice donor variant T/C snv 0.700 1.000 2 2010 2015
dbSNP: rs1568318540
rs1568318540
1 1.000 0.120 19 13075547 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1555696611
rs1555696611
2 0.925 0.240 19 13025350 frameshift variant C/- delins 0.700 0
dbSNP: rs1555696625
rs1555696625
7 0.851 0.360 19 13025409 missense variant G/A snv 0.700 0
dbSNP: rs1555705733
rs1555705733
1 1.000 0.120 19 13075641 frameshift variant -/C delins 0.700 0
dbSNP: rs1568268397
rs1568268397
2 0.925 0.240 19 13025129 stop gained A/T snv 0.700 0
dbSNP: rs387907253
rs387907253
2 0.925 0.240 19 13073055 stop gained C/T snv 0.700 0
dbSNP: rs398122869
rs398122869
1 1.000 0.120 19 13078665 frameshift variant TC/- delins 0.700 0
dbSNP: rs398122870
rs398122870
1 1.000 0.120 19 13078691 frameshift variant -/T delins 0.700 0
dbSNP: rs398122871
rs398122871
1 1.000 0.120 19 13078659 frameshift variant CTCTC/- delins 0.700 0
dbSNP: rs398122872
rs398122872
1 1.000 0.120 19 13078703 frameshift variant -/C delins 0.700 0
dbSNP: rs398122873
rs398122873
1 1.000 0.120 19 13081843 frameshift variant G/- delins 0.700 0
dbSNP: rs398122874
rs398122874
1 1.000 0.120 19 13078650 frameshift variant -/T delins 0.700 0
dbSNP: rs398122875
rs398122875
1 1.000 0.120 19 13078613 frameshift variant -/C delins 0.700 0
dbSNP: rs398122876
rs398122876
1 1.000 0.120 19 13075672 splice donor variant G/A;T snv 0.700 0
dbSNP: rs797045737
rs797045737
1 1.000 0.120 19 13081680 frameshift variant GAGCCCCCGGGCCACAG/- delins 0.700 0
dbSNP: rs797045738
rs797045738
1 1.000 0.120 19 13078626 frameshift variant AA/- delins 0.700 0