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rs121918628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918628(A;A)
Make rs121918628(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position165998049
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918628
ebirs121918628
HLIrs121918628
Exacrs121918628
Varsomers121918628
Maprs121918628
PheGenIrs121918628
hapmaprs121918628
1000 genomesrs121918628
hgdprs121918628
ensemblrs121918628
gopubmedrs121918628
geneviewrs121918628
scholarrs121918628
googlers121918628
pharmgkbrs121918628
gwascentralrs121918628
openSNPrs121918628
23andMers121918628
23andMe allrs121918628
SNP Nexus

SNPshotrs121918628
SNPdbers121918628
MSV3drs121918628
GWAS Ctlgrs121918628
Max Magnitude0
OMIM182389
Desc
Variant0012
Relatedalso
OMIM609634
Desc
Variant
Relatedalso
ClinVar
Risk rs121918628(A;A)
Alt rs121918628(A;A)
Reference rs121918628(C;C)
Significance Pathogenic
Disease Familial hemiplegic migraine type 3
Variation info
Gene LOC102724058 SCN1A
CLNDBN Familial hemiplegic migraine type 3
Reversed 1
HGVS NC_000002.11:g.166854559G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013753.26,


[PMID 16054936] Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.