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: rs1556880284
rs1556880284
IQSEC2
1 1.000 0.080 X 53320973 frameshift variant GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC/AT delins 0.700 0
dbSNP: rs267607187
rs267607187
IQSEC2
1 1.000 0.080 X 53248778 missense variant T/G snv 0.800 1.000 2 2010 2015
dbSNP: rs1556863492
rs1556863492
IQSEC2
1 1.000 0.080 X 53251018 frameshift variant TAGAGGGG/- delins 0.700 0
dbSNP: rs797045140
rs797045140
IQSEC2
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016