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: rs759274321
rs759274321
CACNA1D
1 1.000 0.080 3 53673723 missense variant C/T snv 1.6E-05 3.5E-05 0.710 1.000 1 2019 2019
dbSNP: rs398122827
rs398122827
CACNA1D
1 1.000 0.080 3 53673802 inframe insertion -/GGG delins 0.700 0
dbSNP: rs1031125448
rs1031125448
CACNA1D
1 1.000 0.080 3 53673033 missense variant C/T snv 0.010 1.000 1 2019 2019