Disease: Autistic behavior
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6