Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908214(A;C)
Make rs121908214(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position13230185
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908214
dbSNP (classic)rs121908214
ClinGenrs121908214
ebirs121908214
HLIrs121908214
Exacrs121908214
Gnomadrs121908214
Varsomers121908214
LitVarrs121908214
Maprs121908214
PheGenIrs121908214
Biobankrs121908214
1000 genomesrs121908214
hgdprs121908214
ensemblrs121908214
geneviewrs121908214
scholarrs121908214
googlers121908214
pharmgkbrs121908214
gwascentralrs121908214
openSNPrs121908214
23andMers121908214
SNPshotrs121908214
SNPdbers121908214
MSV3drs121908214
GWAS Ctlgrs121908214
Merged fromRs121909313
Max Magnitude0
OMIM601011
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908214(C;C)
Alt rs121908214(C;C)
Reference Rs121908214(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.13340999T>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009012.4,