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rs121918411

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918411(C;C)
Make rs121918411(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851420
GeneGLRA1
is asnp
is mentioned by
dbSNPrs121918411
ebirs121918411
HLIrs121918411
Exacrs121918411
Varsomers121918411
Maprs121918411
PheGenIrs121918411
hapmaprs121918411
1000 genomesrs121918411
hgdprs121918411
ensemblrs121918411
gopubmedrs121918411
geneviewrs121918411
scholarrs121918411
googlers121918411
pharmgkbrs121918411
gwascentralrs121918411
openSNPrs121918411
23andMers121918411
23andMe allrs121918411
SNP Nexus

SNPshotrs121918411
SNPdbers121918411
MSV3drs121918411
GWAS Ctlgrs121918411
Max Magnitude0
OMIM138491
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918411(C,T;C,T)
Alt rs121918411(C,T;C,T)
Reference rs121918411(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151230981C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017442.29,