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rs16022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs16022(C;C)
Make rs16022(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13298882
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs16022
ebirs16022
HLIrs16022
Exacrs16022
Varsomers16022
Maprs16022
PheGenIrs16022
hapmaprs16022
1000 genomesrs16022
hgdprs16022
ensemblrs16022
gopubmedrs16022
geneviewrs16022
scholarrs16022
googlers16022
pharmgkbrs16022
gwascentralrs16022
openSNPrs16022
23andMers16022
23andMe allrs16022
SNP Nexus

SNPshotrs16022
SNPdbers16022
MSV3drs16022
GWAS Ctlgrs16022
GMAF0.1129
Max Magnitude0
rs16022, also known as E918D, 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 rs16023 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 rs16022(A,C;A,C)
Alt rs16022(A,C;A,C)
Reference rs16022(G;G)
Significance Other
Disease not provided not specified
Variation info
Gene CACNA1A
CLNDBN not provided not specified
Reversed 1
HGVS NC_000019.9:g.13409696C>G
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000059296.1, RCV000116520.6,



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


GET Evidence
CACNA1A-E920D
aa_change Glu920Asp
aa_change_short E920D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0227273
summary