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rs121918418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918418(A;A)
Make rs121918418(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position151829009
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918418
ebirs121918418
HLIrs121918418
Exacrs121918418
Varsomers121918418
Maprs121918418
PheGenIrs121918418
hapmaprs121918418
1000 genomesrs121918418
hgdprs121918418
ensemblrs121918418
gopubmedrs121918418
geneviewrs121918418
scholarrs121918418
googlers121918418
pharmgkbrs121918418
gwascentralrs121918418
openSNPrs121918418
23andMers121918418
23andMe allrs121918418
SNP Nexus

SNPshotrs121918418
SNPdbers121918418
MSV3drs121918418
GWAS Ctlgrs121918418
Max Magnitude0
OMIM138491
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918418(A;A)
Alt rs121918418(A;A)
Reference rs121918418(C;C)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151208570G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017451.29,