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: rs1555518210
rs1555518210
2 1.000 0.080 16 68833288 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555518239
rs1555518239
2 1.000 0.080 16 68833356 stop gained G/T snv 0.700 0
dbSNP: rs1567501500
rs1567501500
1 1.000 0.080 16 68801874 frameshift variant -/CCGCCCC delins 0.700 0
dbSNP: rs1567504575
rs1567504575
1 1.000 0.080 16 68808493 stop gained A/T snv 0.700 0
dbSNP: rs1567507724
rs1567507724
1 1.000 0.080 16 68813345 frameshift variant C/- del 0.700 0
dbSNP: rs1567508939
rs1567508939
1 1.000 0.080 16 68815652 frameshift variant TG/- delins 0.700 0
dbSNP: rs1567513227
rs1567513227
1 1.000 0.080 16 68823452 frameshift variant A/- delins 0.700 0
dbSNP: rs1567516230
rs1567516230
1 1.000 0.080 16 68829798 splice donor variant G/T snv 0.700 0
dbSNP: rs587782750
rs587782750
2 1.000 0.080 16 68822210 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs730881663
rs730881663
1 1.000 0.080 16 68810216 stop gained C/A snv 0.700 0
dbSNP: rs786201058
rs786201058
2 1.000 0.080 16 68738324 stop gained G/C;T snv 0.700 0
dbSNP: rs786202033
rs786202033
2 1.000 0.080 16 68823461 frameshift variant C/- del 0.700 0
dbSNP: rs786202151
rs786202151
2 1.000 0.080 16 68801708 frameshift variant T/- del 0.700 0
dbSNP: rs786202785
rs786202785
2 1.000 0.080 16 68828281 stop gained G/A;T snv 0.700 0
dbSNP: rs786203089
rs786203089
2 1.000 0.080 16 68819425 splice donor variant TAAGGG/- delins 0.700 0
dbSNP: rs864622655
rs864622655
1 1.000 0.080 16 68808536 frameshift variant A/- delins 0.700 0
dbSNP: rs876659446
rs876659446
2 1.000 0.080 16 68812263 splice donor variant G/- delins 0.700 0
dbSNP: rs876659503
rs876659503
1 1.000 0.080 16 68810302 stop gained G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs876659716
rs876659716
2 1.000 0.080 16 68819283 stop gained T/A;C snv 8.0E-06 0.700 0
dbSNP: rs876661106
rs876661106
1 1.000 0.080 16 68801843 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs876661107
rs876661107
1 1.000 0.080 16 68808504 stop gained G/A snv 0.700 0
dbSNP: rs878854690
rs878854690
1 1.000 0.080 16 68801862 frameshift variant -/G delins 0.700 0
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: rs876658261
rs876658261
2 1.000 0.080 16 68815681 frameshift variant CGAGGAC/- delins 0.700 1.000 1 1999 1999
dbSNP: rs121964876
rs121964876
1 1.000 0.080 16 68738318 stop gained G/T snv 0.700 1.000 2 1999 2000