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rs121918633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918633(C;C)
Make rs121918633(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165998047
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918633
ebirs121918633
HLIrs121918633
Exacrs121918633
Varsomers121918633
Maprs121918633
PheGenIrs121918633
hapmaprs121918633
1000 genomesrs121918633
hgdprs121918633
ensemblrs121918633
gopubmedrs121918633
geneviewrs121918633
scholarrs121918633
googlers121918633
pharmgkbrs121918633
gwascentralrs121918633
openSNPrs121918633
23andMers121918633
23andMe allrs121918633
SNP Nexus

SNPshotrs121918633
SNPdbers121918633
MSV3drs121918633
GWAS Ctlgrs121918633
Max Magnitude0
OMIM182389
Desc
Variant0022
Relatedalso
OMIM609634
Desc
Variant
Relatedalso
ClinVar
Risk rs121918633(C;C)
Alt rs121918633(C;C)
Reference rs121918633(G;G)
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.166854557C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013766.26,


[PMID 19332696] Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.