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rs281864921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864921(-;-)
Make rs281864921(-;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151829059
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864921
dbSNP (classic)rs281864921
ClinGenrs281864921
ebirs281864921
HLIrs281864921
Exacrs281864921
Gnomadrs281864921
Varsomers281864921
LitVarrs281864921
Maprs281864921
PheGenIrs281864921
Biobankrs281864921
1000 genomesrs281864921
hgdprs281864921
ensemblrs281864921
geneviewrs281864921
scholarrs281864921
googlers281864921
pharmgkbrs281864921
gwascentralrs281864921
openSNPrs281864921
23andMers281864921
SNPshotrs281864921
SNPdbers281864921
MSV3drs281864921
GWAS Ctlgrs281864921
Max Magnitude0
ClinVar
Risk rs281864921(-;-)
Alt rs281864921(-;-)
Reference Rs281864921(T;T)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151208620delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000031893.2,