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rs121918414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918414(A;G)
Make rs121918414(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151856337
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918414
ebirs121918414
HLIrs121918414
Exacrs121918414
Varsomers121918414
Maprs121918414
PheGenIrs121918414
hapmaprs121918414
1000 genomesrs121918414
hgdprs121918414
ensemblrs121918414
gopubmedrs121918414
geneviewrs121918414
scholarrs121918414
googlers121918414
pharmgkbrs121918414
gwascentralrs121918414
openSNPrs121918414
23andMers121918414
23andMe allrs121918414
SNP Nexus

SNPshotrs121918414
SNPdbers121918414
MSV3drs121918414
GWAS Ctlgrs121918414
Max Magnitude0
OMIM138491
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918414(G;G)
Alt rs121918414(G;G)
Reference rs121918414(A;A)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151235898T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017446.25, RCV000031895.1,