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rs121918413

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918413(A;A)
Make rs121918413(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851470
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918413
ebirs121918413
HLIrs121918413
Exacrs121918413
Varsomers121918413
Maprs121918413
PheGenIrs121918413
hapmaprs121918413
1000 genomesrs121918413
hgdprs121918413
ensemblrs121918413
gopubmedrs121918413
geneviewrs121918413
scholarrs121918413
googlers121918413
pharmgkbrs121918413
gwascentralrs121918413
openSNPrs121918413
23andMers121918413
23andMe allrs121918413
SNP Nexus

SNPshotrs121918413
SNPdbers121918413
MSV3drs121918413
GWAS Ctlgrs121918413
Max Magnitude0
OMIM138491
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918413(A;A)
Alt rs121918413(A;A)
Reference rs121918413(C;C)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151231031G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017444.29,