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rs16023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs16023(A;T)
Make rs16023(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13298658
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs16023
ebirs16023
HLIrs16023
Exacrs16023
Varsomers16023
Maprs16023
PheGenIrs16023
hapmaprs16023
1000 genomesrs16023
hgdprs16023
ensemblrs16023
gopubmedrs16023
geneviewrs16023
scholarrs16023
googlers16023
pharmgkbrs16023
gwascentralrs16023
openSNPrs16023
23andMers16023
23andMe allrs16023
SNP Nexus

SNPshotrs16023
SNPdbers16023
MSV3drs16023
GWAS Ctlgrs16023
GMAF0.1244
Max Magnitude0
rs16023, also known as E993V, is a SNP in the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1A gene.

On it's own it is not associated with migraines; however, individuals with both this SNP and a variant rs16022 have a 2x increased risk of any type of migraine, at least if a study of ~100 Italian patients is correct.[PMID 19429006]


ClinVar
Risk rs16023(T;T)
Alt rs16023(T;T)
Reference rs16023(A;A)
Significance Other
Disease not provided not specified
Variation info
Gene CACNA1A
CLNDBN not provided not specified
Reversed 1
HGVS NC_000019.9:g.13409472T>A
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000059297.1, RCV000116521.6,



[PMID 16866717] Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.


GET Evidence
CACNA1A-E995V
aa_change Glu995Val
aa_change_short E995V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.05
summary