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
dbSNP: rs886039323
rs886039323
CACNA1E
1 1.000 1 181651440 missense variant G/A snv 0.800 1.000 1 2018 2018
dbSNP: rs869312920
rs869312920
CACNA1E
1 1.000 1 181724488 missense variant T/C snv 0.800 0
dbSNP: rs12131800
rs12131800
CACNA1E
1 1.000 1 181724499 missense variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1361083258
rs1361083258
CACNA1E
1 1.000 1 181721870 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1553286282
rs1553286282
CACNA1E
1 1.000 1 181579138 missense variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1553345844
rs1553345844
CACNA1E
1 1.000 1 181757085 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1558308998
rs1558308998
CACNA1E
1 1.000 1 181724496 missense variant A/G snv 0.700 0