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: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.700 1.000 10 1994 2012
dbSNP: rs28930068
rs28930068
CACNA1S
3 0.925 0.160 1 201053538 missense variant C/T snv 4.0E-06 0.700 1.000 7 1995 2015
dbSNP: rs28930069
rs28930069
CACNA1S
5 0.882 0.200 1 201053539 missense variant G/A;C snv 0.700 1.000 4 1994 2007
dbSNP: rs1553252746
rs1553252746
CACNA1S
2 1.000 1 201091770 frameshift variant G/- delins 0.700 0
dbSNP: rs1558056376
rs1558056376
CACNA1S
2 1.000 1 201050983 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1558071742
rs1558071742
CACNA1S
2 1.000 1 201076951 frameshift variant T/- delins 0.700 0
dbSNP: rs1800559
rs1800559
CACNA1S
3 0.925 0.080 1 201060815 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs201998231
rs201998231
CACNA1S
2 1.000 1 201092011 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs550371466
rs550371466
CACNA1S ; LOC101929305
2 1.000 1 201041534 stop gained G/A;T snv 9.2E-05; 4.0E-06 0.700 0
dbSNP: rs762294904
rs762294904
CACNA1S
2 1.000 1 201077995 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs80338779
rs80338779
CACNA1S
3 0.925 0.160 1 201066283 missense variant C/A snv 0.700 0