Source: CLINVAR

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: rs786200963
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		0.700 1.000 1 2015 2015