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: rs587781290
rs587781290
2 1.000 0.080 16 68808552 frameshift variant -/A delins 0.700 1.000 4 2007 2015
dbSNP: rs1555518221
rs1555518221
2 1.000 0.080 16 68833320 frameshift variant -/C delins 0.700 1.000 4 1999 2018
dbSNP: rs1375617541
rs1375617541
1 1.000 0.080 16 68829739 frameshift variant -/C delins 4.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs1555517100
rs1555517100
2 1.000 0.080 16 68823489 frameshift variant -/C delins 0.700 0
dbSNP: rs1567501500
rs1567501500
1 1.000 0.080 16 68801874 frameshift variant -/CCGCCCC delins 0.700 0
dbSNP: rs878854690
rs878854690
1 1.000 0.080 16 68801862 frameshift variant -/G delins 0.700 0
dbSNP: rs1555514406
rs1555514406
1 1.000 0.080 16 68801709 frameshift variant -/T delins 0.700 0
dbSNP: rs1555516200
rs1555516200
2 1.000 0.080 16 68815760 splice donor variant -/T;TT delins 0.700 1.000 4 2008 2014
dbSNP: rs1567513227
rs1567513227
1 1.000 0.080 16 68823452 frameshift variant A/- delins 0.700 0
dbSNP: rs864622655
rs864622655
1 1.000 0.080 16 68808536 frameshift variant A/- delins 0.700 0
dbSNP: rs1555515596
rs1555515596
1 1.000 0.080 16 68811682 splice acceptor variant A/G snv 0.700 1.000 7 2008 2012
dbSNP: rs1064794231
rs1064794231
1 1.000 0.080 16 68810240 missense variant A/G snv 7.0E-06 0.700 1.000 5 2007 2015
dbSNP: rs1555509622
rs1555509622
1 1.000 0.080 16 68737416 start lost A/G snv 0.700 1.000 5 1990 2017
dbSNP: rs1060501226
rs1060501226
1 1.000 0.080 16 68738295 splice acceptor variant A/G snv 0.700 1.000 3 1999 2007
dbSNP: rs876660393
rs876660393
2 1.000 0.080 16 68829652 splice acceptor variant A/G snv 0.700 1.000 2 2004 2010
dbSNP: rs876658146
rs876658146
3 0.882 0.200 16 68815743 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1555516520
rs1555516520
1 1.000 0.080 16 68819278 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555518210
rs1555518210
2 1.000 0.080 16 68833288 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555518211
rs1555518211
2 1.000 0.080 16 68833296 stop gained A/G;T snv 0.700 1.000 3 1999 2013
dbSNP: rs876661106
rs876661106
1 1.000 0.080 16 68801843 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1567504575
rs1567504575
1 1.000 0.080 16 68808493 stop gained A/T snv 0.700 0
dbSNP: rs1555515214
rs1555515214
2 1.000 0.080 16 68808493 frameshift variant AAGA/- del 0.700 0
dbSNP: rs1060501224
rs1060501224
1 1.000 0.080 16 68822180 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs876659208
rs876659208
2 1.000 0.080 16 68815666 frameshift variant AG/- delins 0.700 1.000 2 2004 2012
dbSNP: rs1555517074
rs1555517074
2 1.000 0.080 16 68823409 frameshift variant AT/-;ATAT delins 0.700 0