Source: BEFREE

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: rs200345816
rs200345816
CUX1 ; SH2B2
0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2019 2019
dbSNP: rs200345816
rs200345816
CUX1 ; SH2B2
0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 1.000 1 2019 2019
dbSNP: rs200345816
rs200345816
CUX1 ; SH2B2
0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2019 2019