Source: ALL

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: rs1555762869
rs1555762869
CACNA1A
1.000 0.120 19 13317187 frameshift variant TG/- del
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs121908238
rs121908238
CACNA1A
1.000 0.120 19 13365358 missense variant T/C snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.710 1.000 15 1996 2011
dbSNP: rs121908229
rs121908229
CACNA1A
1.000 0.120 19 13234966 missense variant T/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.710 1.000 15 1996 2011
dbSNP: rs1555757523
rs1555757523
CACNA1A
0.925 0.120 19 13303832 frameshift variant T/- del
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1568440440
rs1568440440
CACNA1A
0.925 0.120 19 13228767 stop gained GT/- delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1555755909
rs1555755909
CACNA1A
0.925 0.120 19 13298704 frameshift variant GCTCCGCCTTGTCCTCCGGACCCTCC/- delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs121908242
rs121908242
CACNA1A
1.000 0.120 19 13298946 missense variant G/A;C snv 5.6E-05; 1.1E-03
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 14 1996 2011
dbSNP: rs774224202
rs774224202
CACNA1A
1.000 0.120 19 13277108 stop gained G/A;C snv 4.8E-05 4.2E-05
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.800 1.000 22 1996 2017
dbSNP: rs121908228
rs121908228
CACNA1A
1.000 0.120 19 13365344 missense variant G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.800 1.000 15 1996 2011
dbSNP: rs121908235
rs121908235
CACNA1A
1.000 0.120 19 13209438 missense variant G/A snv 4.5E-05 6.3E-05
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 15 1996 2011
dbSNP: rs121908239
rs121908239
CACNA1A
1.000 0.120 19 13334411 missense variant G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 15 1996 2011
dbSNP: rs121908240
rs121908240
CACNA1A
1.000 0.120 19 13317168 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 15 1996 2011
dbSNP: rs121908243
rs121908243
CACNA1A
1.000 0.120 19 13235649 missense variant G/A snv 7.0E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.800 1.000 15 1996 2011
dbSNP: rs1568473233
rs1568473233
CACNA1A
0.925 0.120 19 13262790 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 2 2012 2012
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs121909324
rs121909324
CACNA1A
0.851 0.160 19 13255217 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 1 1999 1999
dbSNP: rs121908225
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1555743942
rs1555743942
CACNA1A
0.925 0.120 19 13257514 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1568470104
rs1568470104
CACNA1A
0.925 0.120 19 13259661 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1568473171
rs1568473171
CACNA1A
1.000 0.120 19 13262772 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs779221807
rs779221807
CACNA1A
0.925 0.120 19 13212204 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs746790849
rs746790849
CACNA1A
1.000 0.120 19 13286645 frameshift variant G/-;GG delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs587776692
rs587776692
CACNA1A
1.000 0.120 19 13283295 frameshift variant G/- delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1555756461
rs1555756461
CACNA1A
0.925 0.120 19 13299314 frameshift variant CAC/GT delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0