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rs121918410

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918410(A;G)
Make rs121918410(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151829060
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918410
ebirs121918410
HLIrs121918410
Exacrs121918410
Varsomers121918410
Maprs121918410
PheGenIrs121918410
hapmaprs121918410
1000 genomesrs121918410
hgdprs121918410
ensemblrs121918410
gopubmedrs121918410
geneviewrs121918410
scholarrs121918410
googlers121918410
pharmgkbrs121918410
gwascentralrs121918410
openSNPrs121918410
23andMers121918410
23andMe allrs121918410
SNP Nexus

SNPshotrs121918410
SNPdbers121918410
MSV3drs121918410
GWAS Ctlgrs121918410
Max Magnitude0
OMIM138491
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918410(C,G;C,G)
Alt rs121918410(C,G;C,G)
Reference rs121918410(A;A)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151208621T>C; NC_000005.9:g.151208621T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017441.25, RCV000031892.2,