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: rs786200963
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 1 2015 2015
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: 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: 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: rs121908231
rs121908231
CACNA1A
1.000 0.120 19 13365335 missense variant A/G snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 15 1996 2011
dbSNP: rs121908236
rs121908236
CACNA1A
0.925 0.160 19 13359724 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.800 1.000 15 1996 2011
dbSNP: rs121908215
rs121908215
CACNA1A
0.882 0.160 19 13359707 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.800 1.000 15 1996 2011
dbSNP: rs863224852
rs863224852
CACNA1A
0.882 0.160 19 13359680 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.710 1.000 1 2016 2016
dbSNP: rs1272886269
rs1272886269
CACNA1A
0.925 0.120 19 13335805 splice donor variant C/T snv 4.2E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
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: rs1568528298
rs1568528298
CACNA1A
0.925 0.120 19 13317254 frameshift variant -/T delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1555762908
rs1555762908
CACNA1A
0.925 0.120 19 13317228 frameshift variant C/- del
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1568528144
rs1568528144
CACNA1A
0.925 0.120 19 13317198 stop gained C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
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: 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: rs1555762855
rs1555762855
CACNA1A
0.925 0.120 19 13317146 frameshift variant AACAATAGCAACACACAGCGTG/- delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1555759066
rs1555759066
CACNA1A
0.925 0.120 19 13308496 stop gained C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs121908246
rs121908246
CACNA1A
1.000 0.120 19 13308123 missense variant C/A;T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 15 1996 2011
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: 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: rs1568514371
rs1568514371
CACNA1A
1.000 0.120 19 13303803 frameshift variant AG/CTCC delins
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0
dbSNP: rs1555756737
rs1555756737
CACNA1A
0.925 0.120 19 13300638 stop gained C/A snv
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
dbSNP: rs121908241
rs121908241
CACNA1A
1.000 0.120 19 13299243 missense variant A/G snv 4.1E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 15 1996 2011