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: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.830 1.000 0 1996 2018
dbSNP: rs121908213
rs121908213
CACNA1A
1.000 0.080 19 13303580 missense variant A/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.820 1.000 0 1996 2017
dbSNP: rs121908214
rs121908214
CACNA1A
0.925 0.080 19 13230185 missense variant T/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.820 1.000 0 1996 2017
dbSNP: rs121908225
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.820 1.000 0 1996 2017
dbSNP: rs121908211
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.810 1.000 0 1996 2017
dbSNP: rs121908217
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 1.000 0 1996 2017
dbSNP: rs121908218
rs121908218
CACNA1A
0.925 0.080 19 13303576 missense variant G/A;C;T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 1.000 0 1996 2017
dbSNP: rs121908219
rs121908219
CACNA1A
1.000 0.080 19 13261552 missense variant T/C snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 1.000 0 1996 2017
dbSNP: rs121908220
rs121908220
CACNA1A
0.925 0.120 19 13235685 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 1.000 0 1996 2017
dbSNP: rs121908230
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 1.000 0 1996 2017
dbSNP: rs121908237
rs121908237
CACNA1A
1.000 0.080 19 13259589 missense variant C/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 1.000 0 1996 2017
dbSNP: rs1057520918
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 0
dbSNP: rs121909324
rs121909324
CACNA1A
0.851 0.160 19 13255217 stop gained G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 0
dbSNP: rs121909326
rs121909326
CACNA1A
0.882 0.160 19 13235219 missense variant A/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 0
dbSNP: rs1555767914
rs1555767914
CACNA1A
1.000 0.080 19 13335828 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 0
dbSNP: rs794727411
rs794727411
CACNA1A
0.851 0.160 19 13261526 missense variant C/G;T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 0
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 0