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rs116474260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116474260(C;T)
Make rs116474260(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151822915
GeneGLRA1
is asnp
is mentioned by
dbSNPrs116474260
ebirs116474260
HLIrs116474260
Exacrs116474260
Varsomers116474260
Maprs116474260
PheGenIrs116474260
hapmaprs116474260
1000 genomesrs116474260
hgdprs116474260
ensemblrs116474260
gopubmedrs116474260
geneviewrs116474260
scholarrs116474260
googlers116474260
pharmgkbrs116474260
gwascentralrs116474260
openSNPrs116474260
23andMers116474260
23andMe allrs116474260
SNP Nexus

SNPshotrs116474260
SNPdbers116474260
MSV3drs116474260
GWAS Ctlgrs116474260
GMAF0.00551
Max Magnitude0
ClinVar
Risk rs116474260(T;T)
Alt rs116474260(T;T)
Reference rs116474260(C;C)
Significance Pathogenic
Disease Hyperekplexia hereditary
Variation info
Gene GLRA1
CLNDBN Hyperekplexia hereditary
Reversed 0
HGVS NC_000005.9:g.151202476C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031885.2,