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rs281864919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864919(A;A)
Make rs281864919(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151822764
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864919
dbSNP (classic)rs281864919
ClinGenrs281864919
ebirs281864919
HLIrs281864919
Exacrs281864919
Gnomadrs281864919
Varsomers281864919
LitVarrs281864919
Maprs281864919
PheGenIrs281864919
Biobankrs281864919
1000 genomesrs281864919
hgdprs281864919
ensemblrs281864919
geneviewrs281864919
scholarrs281864919
googlers281864919
pharmgkbrs281864919
gwascentralrs281864919
openSNPrs281864919
23andMers281864919
SNPshotrs281864919
SNPdbers281864919
MSV3drs281864919
GWAS Ctlgrs281864919
Max Magnitude0
ClinVar
Risk rs281864919(A;A)
Alt rs281864919(A;A)
Reference Rs281864919(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary not provided
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary not provided
Reversed 1
HGVS NC_000005.9:g.151202325C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031896.1, RCV000358468.1,