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rs281864915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864915(-;-)
Make rs281864915(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position151859963
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864915
ebirs281864915
HLIrs281864915
Exacrs281864915
Varsomers281864915
Maprs281864915
PheGenIrs281864915
hapmaprs281864915
1000 genomesrs281864915
hgdprs281864915
ensemblrs281864915
gopubmedrs281864915
geneviewrs281864915
scholarrs281864915
googlers281864915
pharmgkbrs281864915
gwascentralrs281864915
openSNPrs281864915
23andMers281864915
23andMe allrs281864915
SNP Nexus

SNPshotrs281864915
SNPdbers281864915
MSV3drs281864915
GWAS Ctlgrs281864915
Max Magnitude0
ClinVar
Risk rs281864915(;)
Alt rs281864915(;)
Reference rs281864915(C;C)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151239524delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000017445.28, RCV000031895.1,