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: rs372292910
rs372292910
PCDHB4
1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs372292910
rs372292910
PCDHB4
1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs372292910
rs372292910
PCDHB4
1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0