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: rs137852526
rs137852526
L1CAM
2 0.925 0.120 X 153870475 missense variant G/A snv 0.800 1.000 1 2006 2006
dbSNP: rs797045673
rs797045673
L1CAM
2 0.925 0.120 X 153866802 stop gained G/A snv 0.700 0