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rs746136135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746136135(C;T)
Make rs746136135(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position46875551
GeneLRP4
is asnp
is mentioned by
dbSNPrs746136135
dbSNP (classic)rs746136135
ClinGenrs746136135
ebirs746136135
HLIrs746136135
Exacrs746136135
Gnomadrs746136135
Varsomers746136135
LitVarrs746136135
Maprs746136135
PheGenIrs746136135
Biobankrs746136135
1000 genomesrs746136135
hgdprs746136135
ensemblrs746136135
geneviewrs746136135
scholarrs746136135
googlers746136135
pharmgkbrs746136135
gwascentralrs746136135
openSNPrs746136135
23andMers746136135
SNPshotrs746136135
SNPdbers746136135
MSV3drs746136135
GWAS Ctlgrs746136135
Max Magnitude0
ClinVar
Risk rs746136135(T;T)
Alt rs746136135(T;T)
Reference Rs746136135(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene LRP4
CLNDBN Myasthenic syndrome, congenital, 17
Reversed 0
HGVS NC_000011.9:g.46897102C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000170321.4,