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rs121918412

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918412(A;G)
Make rs121918412(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851392
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918412
ebirs121918412
HLIrs121918412
Exacrs121918412
Varsomers121918412
Maprs121918412
PheGenIrs121918412
hapmaprs121918412
1000 genomesrs121918412
hgdprs121918412
ensemblrs121918412
gopubmedrs121918412
geneviewrs121918412
scholarrs121918412
googlers121918412
pharmgkbrs121918412
gwascentralrs121918412
openSNPrs121918412
23andMers121918412
23andMe allrs121918412
SNP Nexus

SNPshotrs121918412
SNPdbers121918412
MSV3drs121918412
GWAS Ctlgrs121918412
Max Magnitude0
OMIM138491
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918412(G;G)
Alt rs121918412(G;G)
Reference rs121918412(A;A)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151230953T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017443.30,