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rs121908225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908225(C;T)
Make rs121908225(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13365448
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908225
ebirs121908225
HLIrs121908225
Exacrs121908225
Varsomers121908225
Maprs121908225
PheGenIrs121908225
hapmaprs121908225
1000 genomesrs121908225
hgdprs121908225
ensemblrs121908225
gopubmedrs121908225
geneviewrs121908225
scholarrs121908225
googlers121908225
pharmgkbrs121908225
gwascentralrs121908225
openSNPrs121908225
23andMers121908225
23andMe allrs121908225
SNP Nexus

SNPshotrs121908225
SNPdbers121908225
MSV3drs121908225
GWAS Ctlgrs121908225
Merged fromRs121909320
Max Magnitude0
OMIM601011
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121908225(T;T)
Alt rs121908225(T;T)
Reference rs121908225(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.13476262G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009027.3,


[PMID 11409427] Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.