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: rs387906933
rs387906933
SHANK3
1 1.000 22 50698797 missense variant C/A;G;T snv 4.1E-06 0.800 1.000 1 2010 2010
dbSNP: rs1555910162
rs1555910162
SHANK3
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs387906932
rs387906932
SHANK3
1 1.000 22 50721182 stop gained C/T snv 0.700 0