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: rs41276445
rs41276445
CACNA1D
1 1.000 3 53730470 missense variant C/A;G;T snv 2.9E-04; 1.2E-05 0.800 1.000 1 2013 2013
dbSNP: rs386834264
rs386834264
CACNA1D
2 0.925 0.040 3 53673804 missense variant G/A snv 0.700 1.000 1 2013 2013