Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1566446604
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 4 2012 2016