rs121908212, CACNA1A

N. diseases: 10
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
20 0.732 0.160 19 13303877 missense variant G/A snv 0.830 1.000 3 1996 2018
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
21 0.732 0.160 19 13303877 missense variant G/A snv 0.030 1.000 3 2002 2012
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
10 0.732 0.160 19 13303877 missense variant G/A snv 0.030 1.000 3 1999 2019
Ataxia
CUI: C0004134
Disease: Ataxia
52 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
64 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
Common Migraine
CUI: C0338480
Disease: Common Migraine
48 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2003 2003
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2004 2004
MIGRAINE, SPORADIC HEMIPLEGIC
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
4 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2014 2014
Nystagmus
CUI: C0028738
Disease: Nystagmus
12 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2008 2008
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
10 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 1999 1999