NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Disease: PITT-HOPKINS-LIKE SYNDROME 2 ×
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: rs1476850082
rs1476850082 		1.000 2 51026369 splice donor variant A/G snv 7.0E-06
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.700 1.000 3 2009 2014
dbSNP: rs771759988
rs771759988 		1.000 2 51026470 splice acceptor variant C/T snv 9.2E-06 3.5E-05
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.700 1.000 3 2009 2014
dbSNP: rs267606922
rs267606922 		1.000 2 50496039 stop gained G/C snv 4.1E-06
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.700 0