Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555756091
rs1555756091
CACNA1A
1 1.000 19 13298847 frameshift variant -/A ins 0.700 1.000 46 1988 2017