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rs121908217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908217(A;A)
Make rs121908217(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13308452
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908217
ebirs121908217
HLIrs121908217
Exacrs121908217
Varsomers121908217
Maprs121908217
PheGenIrs121908217
hapmaprs121908217
1000 genomesrs121908217
hgdprs121908217
ensemblrs121908217
gopubmedrs121908217
geneviewrs121908217
scholarrs121908217
googlers121908217
pharmgkbrs121908217
gwascentralrs121908217
openSNPrs121908217
23andMers121908217
23andMe allrs121908217
SNP Nexus

SNPshotrs121908217
SNPdbers121908217
MSV3drs121908217
GWAS Ctlgrs121908217
Merged fromRs121909321
Max Magnitude0
OMIM601011
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908217(A;A)
Alt rs121908217(A;A)
Reference rs121908217(G;G)
Significance Pathogenic
Disease Familial hemiplegic migraine type 1 Migraine Spinocerebellar ataxia 6
Variation info
Gene CACNA1A
CLNDBN Familial hemiplegic migraine type 1 Migraine, sporadic hemiplegic Spinocerebellar ataxia 6
Reversed 1
HGVS NC_000019.9:g.13419266C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009028.5, RCV000009029.3, RCV000009030.2,


[PMID 11439943] The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.