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rs121908219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908219(A;G)
Make rs121908219(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13261552
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908219
ebirs121908219
HLIrs121908219
Exacrs121908219
Varsomers121908219
Maprs121908219
PheGenIrs121908219
hapmaprs121908219
1000 genomesrs121908219
hgdprs121908219
ensemblrs121908219
gopubmedrs121908219
geneviewrs121908219
scholarrs121908219
googlers121908219
pharmgkbrs121908219
gwascentralrs121908219
openSNPrs121908219
23andMers121908219
23andMe allrs121908219
SNP Nexus

SNPshotrs121908219
SNPdbers121908219
MSV3drs121908219
GWAS Ctlgrs121908219
Merged fromRs121909318
Max Magnitude0
OMIM601011
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908219(G;G)
Alt rs121908219(G;G)
Reference rs121908219(A;A)
Significance Pathogenic
Disease Familial hemiplegic migraine type 1
Variation info
Gene CACNA1A
CLNDBN Familial hemiplegic migraine type 1
Reversed 1
HGVS NC_000019.9:g.13372366T>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009022.4,


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