Gene: SHANK3 ×
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: rs9616914
rs9616914
SHANK3
3 1.000 0.040 22 50678709 intron variant G/A snv 0.35 0.36 0.700 1.000 1 2019 2019
dbSNP: rs767058690
rs767058690
SHANK3
2 0.925 0.040 22 50720865 missense variant G/C;T snv 1.1E-03 0.010 1.000 1 2017 2017