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rs281864914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864914(A;A)
Make rs281864914(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151859962
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864914
ebirs281864914
HLIrs281864914
Exacrs281864914
Varsomers281864914
Maprs281864914
PheGenIrs281864914
hapmaprs281864914
1000 genomesrs281864914
hgdprs281864914
ensemblrs281864914
gopubmedrs281864914
geneviewrs281864914
scholarrs281864914
googlers281864914
pharmgkbrs281864914
gwascentralrs281864914
openSNPrs281864914
23andMers281864914
23andMe allrs281864914
SNP Nexus

SNPshotrs281864914
SNPdbers281864914
MSV3drs281864914
GWAS Ctlgrs281864914
Max Magnitude0
ClinVar
Risk rs281864914(A;A)
Alt rs281864914(A;A)
Reference rs281864914(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151239523C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031886.2,