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: rs876657679
rs876657679
CC2D1A
1.000 0.160 19 13913639 splice donor variant G/T snv
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.700 1.000 1 2014 2014
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