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: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.740 1.000 13 2006 2013
dbSNP: rs558269137
rs558269137
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 7 2006 2016
dbSNP: rs797045090
rs797045090
1 1.000 0.080 1 152312743 stop gained G/A snv 0.700 1.000 5 2006 2012
dbSNP: rs141784184
rs141784184
1 1.000 0.080 1 152309169 stop gained G/A;T snv 8.0E-06; 1.6E-03 0.700 1.000 2 2006 2006
dbSNP: rs535289422
rs535289422
1 1.000 0.080 1 152307697 stop gained G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 2 2011 2013
dbSNP: rs754812742
rs754812742
1 1.000 0.080 1 152310981 stop gained G/A;T snv 2.4E-05; 1.2E-04 0.700 1.000 1 2011 2011
dbSNP: rs761212672
rs761212672
3 0.882 0.120 1 152304999 stop gained G/T snv 3.2E-05 0.700 1.000 1 2008 2008
dbSNP: rs1060499587
rs1060499587
1 1.000 0.080 1 152313983 frameshift variant TCCTG/- delins 0.700 0
dbSNP: rs114733570
rs114733570
1 1.000 0.080 1 152315363 stop gained C/A snv 1.2E-04 2.0E-04 0.700 0
dbSNP: rs115746363
rs115746363
3 0.882 0.120 1 152312410 stop gained G/A;C snv 6.0E-04 0.700 0
dbSNP: rs1214424848
rs1214424848
2 0.925 0.120 1 152314399 stop gained C/A;T snv 8.0E-06 0.700 0
dbSNP: rs121909626
rs121909626
4 0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05 0.700 0
dbSNP: rs138726443
rs138726443
7 0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs149484917
rs149484917
3 0.882 0.120 1 152304939 stop gained G/C;T snv 4.7E-04; 4.0E-06 0.700 0
dbSNP: rs150597413
rs150597413
5 0.827 0.160 1 152305146 stop gained G/A;C;T snv 3.6E-05; 4.0E-06; 1.5E-03 0.700 0
dbSNP: rs200519781
rs200519781
2 1.000 0.080 1 152311565 frameshift variant T/- del 2.9E-04 0.700 0
dbSNP: rs146466242
rs146466242
4 0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs528722713
rs528722713
1 1.000 0.080 1 152307637 stop gained G/A snv 1.4E-04 2.8E-05 0.010 1.000 1 2019 2019