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rs281864916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864916(G;T)
Make rs281864916(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851565
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864916
ebirs281864916
HLIrs281864916
Exacrs281864916
Varsomers281864916
Maprs281864916
PheGenIrs281864916
hapmaprs281864916
1000 genomesrs281864916
hgdprs281864916
ensemblrs281864916
gopubmedrs281864916
geneviewrs281864916
scholarrs281864916
googlers281864916
pharmgkbrs281864916
gwascentralrs281864916
openSNPrs281864916
23andMers281864916
23andMe allrs281864916
SNP Nexus

SNPshotrs281864916
SNPdbers281864916
MSV3drs281864916
GWAS Ctlgrs281864916
Max Magnitude0
ClinVar
Risk rs281864916(A,T;A,T)
Alt rs281864916(A,T;A,T)
Reference rs281864916(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151231126C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031887.2,