SH2B2, SH2B adaptor protein 2, 10603

N. diseases: 59; N. variants: 1
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200345816
rs200345816 		0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200345816
rs200345816 		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) 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs200345816
rs200345816 		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