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rs121918409

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918409(A;A)
Make rs121918409(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851487
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918409
ebirs121918409
HLIrs121918409
Exacrs121918409
Varsomers121918409
Maprs121918409
PheGenIrs121918409
hapmaprs121918409
1000 genomesrs121918409
hgdprs121918409
ensemblrs121918409
gopubmedrs121918409
geneviewrs121918409
scholarrs121918409
googlers121918409
pharmgkbrs121918409
gwascentralrs121918409
openSNPrs121918409
23andMers121918409
23andMe allrs121918409
SNP Nexus

SNPshotrs121918409
SNPdbers121918409
MSV3drs121918409
GWAS Ctlgrs121918409
Merged fromRs28933072
Max Magnitude0
OMIM138491
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918409(A;A)
Alt rs121918409(A;A)
Reference rs121918409(T;T)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151231048A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017440.28,