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rs281864913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864913(C;T)
Make rs281864913(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151828950
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864913
dbSNP (old)rs281864913
ClinGenrs281864913
ebirs281864913
HLIrs281864913
Exacrs281864913
Gnomadrs281864913
Varsomers281864913
Maprs281864913
PheGenIrs281864913
Biobankrs281864913
1000 genomesrs281864913
hgdprs281864913
ensemblrs281864913
gopubmedrs281864913
geneviewrs281864913
scholarrs281864913
googlers281864913
pharmgkbrs281864913
gwascentralrs281864913
openSNPrs281864913
23andMers281864913
23andMe allrs281864913
SNP Nexus

SNPshotrs281864913
SNPdbers281864913
MSV3drs281864913
GWAS Ctlgrs281864913
Max Magnitude0
ClinVar
Risk rs281864913(T;T)
Alt rs281864913(T;T)
Reference Rs281864913(C;C)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151208511G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031894.1,