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: rs782660318
rs782660318
IQSEC2
1 1.000 0.080 X 53255951 frameshift variant C/- delins 0.700 0
dbSNP: rs886041481
rs886041481
IQSEC2
1 1.000 0.080 X 53255995 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1569306667
rs1569306667
IQSEC2
1 1.000 0.080 X 53256062 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1556880284
rs1556880284
IQSEC2
1 1.000 0.080 X 53320973 frameshift variant GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC/AT delins 0.700 0