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rs281864922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864922(A;A)
Make rs281864922(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position157136891
GeneGLRB
is asnp
is mentioned by
dbSNPrs281864922
dbSNP (classic)rs281864922
ClinGenrs281864922
ebirs281864922
HLIrs281864922
Exacrs281864922
Gnomadrs281864922
Varsomers281864922
LitVarrs281864922
Maprs281864922
PheGenIrs281864922
Biobankrs281864922
1000 genomesrs281864922
hgdprs281864922
ensemblrs281864922
geneviewrs281864922
scholarrs281864922
googlers281864922
pharmgkbrs281864922
gwascentralrs281864922
openSNPrs281864922
23andMers281864922
SNPshotrs281864922
SNPdbers281864922
MSV3drs281864922
GWAS Ctlgrs281864922
Max Magnitude0
ClinVar
Risk rs281864922(A;A)
Alt rs281864922(A;A)
Reference Rs281864922(G;G)
Significance Pathogenic
Disease Hyperekplexia 2
Variation info
Gene GLRB
CLNDBN Hyperekplexia 2
Reversed 0
HGVS NC_000004.11:g.158058043G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017437.29,