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rs121909749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909749(A;A)
Make rs121909749(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position157143807
GeneGLRB
is asnp
is mentioned by
dbSNPrs121909749
ebirs121909749
HLIrs121909749
Exacrs121909749
Varsomers121909749
Maprs121909749
PheGenIrs121909749
hapmaprs121909749
1000 genomesrs121909749
hgdprs121909749
ensemblrs121909749
gopubmedrs121909749
geneviewrs121909749
scholarrs121909749
googlers121909749
pharmgkbrs121909749
gwascentralrs121909749
openSNPrs121909749
23andMers121909749
23andMe allrs121909749
SNP Nexus

SNPshotrs121909749
SNPdbers121909749
MSV3drs121909749
GWAS Ctlgrs121909749
Max Magnitude0
OMIM138492
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909749(A;A)
Alt rs121909749(A;A)
Reference rs121909749(G;G)
Significance Pathogenic
Disease Hyperekplexia 2
Variation info
Gene GLRB
CLNDBN Hyperekplexia 2
Reversed 0
HGVS NC_000004.11:g.158064959G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017436.27,