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rs267606848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606848(A;A)
Make rs267606848(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851418
GeneGLRA1
is asnp
is mentioned by
dbSNPrs267606848
ebirs267606848
HLIrs267606848
Exacrs267606848
Varsomers267606848
Maprs267606848
PheGenIrs267606848
hapmaprs267606848
1000 genomesrs267606848
hgdprs267606848
ensemblrs267606848
gopubmedrs267606848
geneviewrs267606848
scholarrs267606848
googlers267606848
pharmgkbrs267606848
gwascentralrs267606848
openSNPrs267606848
23andMers267606848
23andMe allrs267606848
SNP Nexus

SNPshotrs267606848
SNPdbers267606848
MSV3drs267606848
GWAS Ctlgrs267606848
Max Magnitude0
ClinVar
Risk rs267606848(A;A)
Alt rs267606848(A;A)
Reference rs267606848(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151230979C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017452.29,