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rs121918415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918415(A;A)
Make rs121918415(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position151855047
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918415
ebirs121918415
HLIrs121918415
Exacrs121918415
Varsomers121918415
Maprs121918415
PheGenIrs121918415
hapmaprs121918415
1000 genomesrs121918415
hgdprs121918415
ensemblrs121918415
gopubmedrs121918415
geneviewrs121918415
scholarrs121918415
googlers121918415
pharmgkbrs121918415
gwascentralrs121918415
openSNPrs121918415
23andMers121918415
23andMe allrs121918415
SNP Nexus

SNPshotrs121918415
SNPdbers121918415
MSV3drs121918415
GWAS Ctlgrs121918415
Max Magnitude0
OMIM138491
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918415(A;A)
Alt rs121918415(A;A)
Reference rs121918415(C;C)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151234608G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017447.29,