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rs121918416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918416(A;A)
Make rs121918416(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851440
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918416
ebirs121918416
HLIrs121918416
Exacrs121918416
Varsomers121918416
Maprs121918416
PheGenIrs121918416
hapmaprs121918416
1000 genomesrs121918416
hgdprs121918416
ensemblrs121918416
gopubmedrs121918416
geneviewrs121918416
scholarrs121918416
googlers121918416
pharmgkbrs121918416
gwascentralrs121918416
openSNPrs121918416
23andMers121918416
23andMe allrs121918416
SNP Nexus

SNPshotrs121918416
SNPdbers121918416
MSV3drs121918416
GWAS Ctlgrs121918416
Max Magnitude0
OMIM138491
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918416(A;A)
Alt rs121918416(A;A)
Reference rs121918416(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151231001C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017448.25,