Gene: CACNA1A ×
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: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774
CACNA1A
2 1.000 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091
CACNA1A
1 1.000 19 13298847 frameshift variant -/A ins 0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
CACNA1A
6 0.827 0.160 19 13303584 missense variant C/T snv 0.700 1.000 46 1988 2017