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rs121918408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918408(G;T)
Make rs121918408(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851406
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918408
ebirs121918408
HLIrs121918408
Exacrs121918408
Varsomers121918408
Maprs121918408
PheGenIrs121918408
hapmaprs121918408
1000 genomesrs121918408
hgdprs121918408
ensemblrs121918408
gopubmedrs121918408
geneviewrs121918408
scholarrs121918408
googlers121918408
pharmgkbrs121918408
gwascentralrs121918408
openSNPrs121918408
23andMers121918408
23andMe allrs121918408
SNP Nexus

SNPshotrs121918408
SNPdbers121918408
MSV3drs121918408
GWAS Ctlgrs121918408
Max Magnitude0
OMIM138491
Desc
Variant0001
Relatedalso
OMIM138491
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918408(A,T;A,T)
Alt rs121918408(A,T;A,T)
Reference rs121918408(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151230967C>A; NC_000005.9:g.151230967C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017438.28, RCV000017439.26,