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: rs778291283
rs778291283
CACNA1E
1 1.000 1 181720261 missense variant A/C;G snv 4.0E-06 0.800 1.000 1 2018 2018