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rs281864912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864912(G;T)
Make rs281864912(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151859973
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864912
ebirs281864912
HLIrs281864912
Exacrs281864912
Varsomers281864912
Maprs281864912
PheGenIrs281864912
hapmaprs281864912
1000 genomesrs281864912
hgdprs281864912
ensemblrs281864912
gopubmedrs281864912
geneviewrs281864912
scholarrs281864912
googlers281864912
pharmgkbrs281864912
gwascentralrs281864912
openSNPrs281864912
23andMers281864912
23andMe allrs281864912
SNP Nexus

SNPshotrs281864912
SNPdbers281864912
MSV3drs281864912
GWAS Ctlgrs281864912
Max Magnitude0
ClinVar
Risk rs281864912(T;T)
Alt rs281864912(T;T)
Reference rs281864912(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151239534C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031894.1,