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: rs1564354968
rs1564354968
OPTN
3 0.882 0.040 10 13109279 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.700 0
dbSNP: rs75654767
rs75654767
OPTN
4 0.851 0.040 10 13136766 missense variant G/A snv 3.1E-03 1.0E-03 0.700 0