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rs121908237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908237(G;T)
Make rs121908237(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13259589
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908237
dbSNP (classic)rs121908237
ClinGenrs121908237
ebirs121908237
HLIrs121908237
Exacrs121908237
Gnomadrs121908237
Varsomers121908237
LitVarrs121908237
Maprs121908237
PheGenIrs121908237
Biobankrs121908237
1000 genomesrs121908237
hgdprs121908237
ensemblrs121908237
geneviewrs121908237
scholarrs121908237
googlers121908237
pharmgkbrs121908237
gwascentralrs121908237
openSNPrs121908237
23andMers121908237
SNPshotrs121908237
SNPdbers121908237
MSV3drs121908237
GWAS Ctlgrs121908237
Merged fromRs121909322
Max Magnitude0
OMIM601011
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908237(T;T)
Alt rs121908237(T;T)
Reference Rs121908237(G;G)
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.13370403C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009026.5,


[PMID 10408532] Genetic heterogeneity in Italian families with familial hemiplegic migraine.