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rs28933072

From SNPedia

Merged intors121918409
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.1 Homozygous for Hyperekplexia recessive type
(A;T) 1 Carrier of one Hyperekplexia recessive type marker.
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome5
Position151851487
GeneGLRA1
is asnp
is mentioned by
dbSNPrs28933072
dbSNP (classic)rs28933072
ClinGenrs28933072
ebirs28933072
HLIrs28933072
Exacrs28933072
Gnomadrs28933072
Varsomers28933072
LitVarrs28933072
Maprs28933072
PheGenIrs28933072
Biobankrs28933072
1000 genomesrs28933072
hgdprs28933072
ensemblrs28933072
geneviewrs28933072
scholarrs28933072
googlers28933072
pharmgkbrs28933072
gwascentralrs28933072
openSNPrs28933072
23andMers28933072
SNPshotrs28933072
SNPdbers28933072
MSV3drs28933072
GWAS Ctlgrs28933072
StatusMerged into rs121918409
Max Magnitude2.1
OMIM138491
DescHYPEREKPLEXIA, AUTOSOMAL RECESSIVE
Variant0003
Relatedalso