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: rs1555911334
rs1555911334
EP300
1 1.000 0.120 22 41170576 splice region variant G/T snv 0.700 0
dbSNP: rs587778256
rs587778256
EP300 ; EP300-AS1
1 1.000 0.120 22 41178337 inframe deletion CCAGTTCCAGCA/- delins 1.6E-03 1.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs1555910602
rs1555910602
EP300
1 1.000 0.120 22 41164055 inframe deletion TTG/- delins 0.700 0
dbSNP: rs1555911316
rs1555911316
EP300
1 1.000 0.120 22 41170490 inframe deletion ACCCAA/- del 0.700 0
dbSNP: rs875989807
rs875989807
EP300 ; EP300-AS1
3 0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04 0.700 0
dbSNP: rs876661318
rs876661318
EP300
1 1.000 0.120 22 41125902 inframe deletion TATACTCAGAATCCTGGA/- delins 0.700 0