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: rs996807218
rs996807218
KIDINS220
4 0.882 0.080 2 8827045 missense variant T/C snv 0.010 1.000 1 2018 2018