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rs786205153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205153(A;A)
Make rs786205153(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position46875806
GeneLRP4
is asnp
is mentioned by
dbSNPrs786205153
dbSNP (classic)rs786205153
ClinGenrs786205153
ebirs786205153
HLIrs786205153
Exacrs786205153
Gnomadrs786205153
Varsomers786205153
LitVarrs786205153
Maprs786205153
PheGenIrs786205153
Biobankrs786205153
1000 genomesrs786205153
hgdprs786205153
ensemblrs786205153
geneviewrs786205153
scholarrs786205153
googlers786205153
pharmgkbrs786205153
gwascentralrs786205153
openSNPrs786205153
23andMers786205153
SNPshotrs786205153
SNPdbers786205153
MSV3drs786205153
GWAS Ctlgrs786205153
Max Magnitude0
ClinVar
Risk rs786205153(A;A)
Alt rs786205153(A;A)
Reference Rs786205153(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene LRP4
CLNDBN Myasthenic syndrome, congenital, 17
Reversed 1
HGVS NC_000011.9:g.46897357C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000170320.4,