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rs281864920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864920(A;A)
Make rs281864920(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851410
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864920
ebirs281864920
HLIrs281864920
Exacrs281864920
Varsomers281864920
Maprs281864920
PheGenIrs281864920
hapmaprs281864920
1000 genomesrs281864920
hgdprs281864920
ensemblrs281864920
gopubmedrs281864920
geneviewrs281864920
scholarrs281864920
googlers281864920
pharmgkbrs281864920
gwascentralrs281864920
openSNPrs281864920
23andMers281864920
23andMe allrs281864920
SNP Nexus

SNPshotrs281864920
SNPdbers281864920
MSV3drs281864920
GWAS Ctlgrs281864920
Max Magnitude0
ClinVar
Risk rs281864920(A;A)
Alt rs281864920(A;A)
Reference rs281864920(T;T)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151230971A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031891.2,