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rs121908218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908218(C;G)
Make rs121908218(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13303576
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908218
ebirs121908218
HLIrs121908218
Exacrs121908218
Varsomers121908218
Maprs121908218
PheGenIrs121908218
hapmaprs121908218
1000 genomesrs121908218
hgdprs121908218
ensemblrs121908218
gopubmedrs121908218
geneviewrs121908218
scholarrs121908218
googlers121908218
pharmgkbrs121908218
gwascentralrs121908218
openSNPrs121908218
23andMers121908218
23andMe allrs121908218
SNP Nexus

SNPshotrs121908218
SNPdbers121908218
MSV3drs121908218
GWAS Ctlgrs121908218
Merged fromRs121909315
Max Magnitude0
ClinVar
Risk rs121908218(A,G;A,G)
Alt rs121908218(A,G;A,G)
Reference rs121908218(C;C)
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.13414390G>C; NC_000019.9:g.13414390G>T
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059293.1, RCV000009020.4,


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