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rs121908212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908212(C;T)
Make rs121908212(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13303877
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908212
ebirs121908212
HLIrs121908212
Exacrs121908212
Varsomers121908212
Maprs121908212
PheGenIrs121908212
hapmaprs121908212
1000 genomesrs121908212
hgdprs121908212
ensemblrs121908212
gopubmedrs121908212
geneviewrs121908212
scholarrs121908212
googlers121908212
pharmgkbrs121908212
gwascentralrs121908212
openSNPrs121908212
23andMers121908212
23andMe allrs121908212
SNP Nexus

SNPshotrs121908212
SNPdbers121908212
MSV3drs121908212
GWAS Ctlgrs121908212
Merged fromRs121909311
Max Magnitude0
OMIM601011
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908212(T;T)
Alt rs121908212(T;T)
Reference rs121908212(C;C)
Significance Pathogenic
Disease Familial hemiplegic migraine type 1 Migraine
Variation info
Gene CACNA1A
CLNDBN Familial hemiplegic migraine type 1 Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
Reversed 1
HGVS NC_000019.9:g.13414691G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009009.6, RCV000009010.3,


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


[PMID 14718690] Clinical spectrum of episodic ataxia type 2.