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: rs398123023
rs398123023
UBE3B
1 1.000 0.280 12 109521251 missense variant A/C snv 0.800 1.000 1 2012 2012
dbSNP: rs1555269815
rs1555269815
UBE3B
1 1.000 0.280 12 109524504 splice donor variant G/A snv 0.700 0
dbSNP: rs398123020
rs398123020
UBE3B
1 1.000 0.280 12 109509716 splice donor variant T/C snv 0.700 0
dbSNP: rs398123021
rs398123021
UBE3B
1 1.000 0.280 12 109521290 frameshift variant AG/- delins 0.700 0
dbSNP: rs398123022
rs398123022
UBE3B
1 1.000 0.280 12 109489917 splice acceptor variant A/G snv 0.700 0
dbSNP: rs539407162
rs539407162
UBE3B
1 1.000 0.280 12 109533533 missense variant G/A;C snv 4.0E-06 0.700 0