Source: CURATED

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: rs797044873
rs797044873
SNAP25 ; SNAP25-AS1
0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy 		0.700 0
dbSNP: rs797044873
rs797044873
SNAP25 ; SNAP25-AS1
0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		0.700 0
dbSNP: rs797044873
rs797044873
SNAP25 ; SNAP25-AS1
0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.700 0
dbSNP: rs797044873
rs797044873
SNAP25 ; SNAP25-AS1
0.925 0.040 20 10284751 missense variant G/T snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.700 0