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rs121918632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918632(C;C)
Make rs121918632(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165996099
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918632
ebirs121918632
HLIrs121918632
Exacrs121918632
Varsomers121918632
Maprs121918632
PheGenIrs121918632
hapmaprs121918632
1000 genomesrs121918632
hgdprs121918632
ensemblrs121918632
gopubmedrs121918632
geneviewrs121918632
scholarrs121918632
googlers121918632
pharmgkbrs121918632
gwascentralrs121918632
openSNPrs121918632
23andMers121918632
23andMe allrs121918632
SNP Nexus

SNPshotrs121918632
SNPdbers121918632
MSV3drs121918632
GWAS Ctlgrs121918632
Max Magnitude0
OMIM182389
Desc
Variant0021
Relatedalso
OMIM609634
Desc
Variant
Relatedalso
ClinVar
Risk rs121918632(C;C)
Alt rs121918632(C;C)
Reference rs121918632(T;T)
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.166852609A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013765.24,


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