Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28930069
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.820 1.000 4 1994 2010
dbSNP: rs28930069
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.720 1.000 0 2005 2007
dbSNP: rs28930069
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C1866077
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		0.700 1.000 4 1994 2007