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: rs876657679
rs876657679
CC2D1A
1.000 0.160 19 13913639 splice donor variant G/T snv
CUI: C1838023
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 		0.700 0