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rs121908220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908220(C;T)
Make rs121908220(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position13235685
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908220
dbSNP (classic)rs121908220
ClinGenrs121908220
ebirs121908220
HLIrs121908220
Exacrs121908220
Gnomadrs121908220
Varsomers121908220
LitVarrs121908220
Maprs121908220
PheGenIrs121908220
Biobankrs121908220
1000 genomesrs121908220
hgdprs121908220
ensemblrs121908220
geneviewrs121908220
scholarrs121908220
googlers121908220
pharmgkbrs121908220
gwascentralrs121908220
openSNPrs121908220
23andMers121908220
SNPshotrs121908220
SNPdbers121908220
MSV3drs121908220
GWAS Ctlgrs121908220
Max Magnitude0
ClinVar
Risk rs121908220(T;T)
Alt rs121908220(T;T)
Reference Rs121908220(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.13346499G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059303.2,