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: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 1.000 1 2015 2015
dbSNP: rs786200963
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 1.000 1 2015 2015
dbSNP: rs796053124
rs796053124
SCN2A
0.882 0.080 2 165354232 missense variant G/T snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 1.000 1 2010 2010
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 0