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: rs886041095
rs886041095
GRIN2B
11 0.827 0.160 12 13571930 missense variant C/T snv 0.700 0
dbSNP: rs1064794254
rs1064794254
UPF3B
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1057516044
rs1057516044
ABCC9
9 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017