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rs121918417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918417(C;G)
Make rs121918417(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851525
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918417
ebirs121918417
HLIrs121918417
Exacrs121918417
Varsomers121918417
Maprs121918417
PheGenIrs121918417
hapmaprs121918417
1000 genomesrs121918417
hgdprs121918417
ensemblrs121918417
gopubmedrs121918417
geneviewrs121918417
scholarrs121918417
googlers121918417
pharmgkbrs121918417
gwascentralrs121918417
openSNPrs121918417
23andMers121918417
23andMe allrs121918417
SNP Nexus

SNPshotrs121918417
SNPdbers121918417
MSV3drs121918417
GWAS Ctlgrs121918417
Merged fromRs28933073
Max Magnitude0
OMIM138491
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918417(G;G)
Alt rs121918417(G;G)
Reference rs121918417(C;C)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151231086G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017449.26,