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rs281864917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864917(C;C)
Make rs281864917(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151851501
GeneGLRA1
is asnp
is mentioned by
dbSNPrs281864917
ebirs281864917
HLIrs281864917
Exacrs281864917
Varsomers281864917
Maprs281864917
PheGenIrs281864917
hapmaprs281864917
1000 genomesrs281864917
hgdprs281864917
ensemblrs281864917
gopubmedrs281864917
geneviewrs281864917
scholarrs281864917
googlers281864917
pharmgkbrs281864917
gwascentralrs281864917
openSNPrs281864917
23andMers281864917
23andMe allrs281864917
SNP Nexus

SNPshotrs281864917
SNPdbers281864917
MSV3drs281864917
GWAS Ctlgrs281864917
Max Magnitude0
ClinVar
Risk rs281864917(C;C)
Alt rs281864917(C;C)
Reference rs281864917(G;G)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 1
HGVS NC_000005.9:g.151231062C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000031888.2,