Source: ALL
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: rs587781228
rs587781228
UBE3A ; SNHG14
1 1.000 0.080 15 25339207 stop gained G/C snv 0.700 1.000 5 1999 2016
dbSNP: rs587781231
rs587781231
UBE3A ; SNHG14
1 1.000 0.080 15 25339188 frameshift variant TT/- delins 0.700 1.000 3 2001 2014
dbSNP: rs863225068
rs863225068
UBE3A ; SNHG14
1 1.000 0.080 15 25370698 frameshift variant ATAAT/- delins 0.700 1.000 2 2004 2009
dbSNP: rs1064793307
rs1064793307
UBE3A ; SNHG14
1 1.000 0.080 15 25370598 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1555379684
rs1555379684
UBE3A ; SNHG14
1 1.000 0.080 15 25339142 frameshift variant GCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG/- del 0.700 1.000 1 2014 2014
dbSNP: rs1555379745
rs1555379745
UBE3A ; SNHG14
1 1.000 0.080 15 25339174 stop gained -/TCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA delins 0.700 1.000 1 2014 2014
dbSNP: rs398124440
rs398124440
UBE3A ; SNHG14
1 1.000 0.080 15 25339190 stop gained AAGT/-;AAGTAAGT delins 0.700 1.000 1 2014 2014
dbSNP: rs587780565
rs587780565
UBE3A ; SNHG14
1 1.000 0.080 15 25375667 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587780566
rs587780566
UBE3A ; SNHG14
1 1.000 0.080 15 25375563 frameshift variant -/TCTT delins 0.700 1.000 1 2014 2014
dbSNP: rs587780567
rs587780567
UBE3A ; SNHG14
1 1.000 0.080 15 25375502 frameshift variant AT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587780568
rs587780568
UBE3A ; SNHG14
1 1.000 0.080 15 25375490 frameshift variant -/T delins 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587780569
rs587780569
UBE3A ; SNHG14
1 1.000 0.080 15 25375486 frameshift variant TCTT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587780570
rs587780570
UBE3A ; SNHG14
1 1.000 0.080 15 25371799 frameshift variant AAGT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587780571
rs587780571
UBE3A ; SNHG14
1 1.000 0.080 15 25371751 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587780572
rs587780572
UBE3A ; SNHG14
1 1.000 0.080 15 25371710 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs587780573
rs587780573
UBE3A ; SNHG14
1 1.000 0.080 15 25371567 frameshift variant C/- del 0.700 1.000 1 2014 2014
dbSNP: rs587780574
rs587780574
UBE3A ; SNHG14
1 1.000 0.080 15 25371533 frameshift variant -/T delins 0.700 1.000 1 2014 2014
dbSNP: rs587780575
rs587780575
UBE3A ; SNHG14
1 1.000 0.080 15 25371426 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587780576
rs587780576
UBE3A ; SNHG14
1 1.000 0.080 15 25371397 stop gained A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs587780577
rs587780577
UBE3A ; SNHG14
1 1.000 0.080 15 25405461 start lost A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs587780578
rs587780578
UBE3A ; SNHG14
1 1.000 0.080 15 25371814 splice acceptor variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587780579
rs587780579
UBE3A ; SNHG14
1 1.000 0.080 15 25356898 splice acceptor variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs587780580
rs587780580
UBE3A ; SNHG14
1 1.000 0.080 15 25354685 splice acceptor variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs587780585
rs587780585
UBE3A ; SNHG14
1 1.000 0.080 15 25370735 inframe deletion GGGACATGTCATAAA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587781190
rs587781190
UBE3A ; SNHG14
1 1.000 0.080 15 25371364 stop gained A/T snv 0.700 1.000 1 2014 2014