Source: ALL

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: rs775578531
rs775578531
TYK2
1.000 0.120 19 10353648 splice acceptor variant T/C snv 7.2E-06
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.700 1.000 2 2012 2015