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: rs1554844486
rs1554844486
KAT6B
10 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
7 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
11 0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins 0.700 0