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rs397509418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509418(A;A)
Make rs397509418(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position183684059
GeneTRAPPC11
is asnp
is mentioned by
dbSNPrs397509418
dbSNP (classic)rs397509418
ClinGenrs397509418
ebirs397509418
HLIrs397509418
Exacrs397509418
Gnomadrs397509418
Varsomers397509418
LitVarrs397509418
Maprs397509418
PheGenIrs397509418
Biobankrs397509418
1000 genomesrs397509418
hgdprs397509418
ensemblrs397509418
geneviewrs397509418
scholarrs397509418
googlers397509418
pharmgkbrs397509418
gwascentralrs397509418
openSNPrs397509418
23andMers397509418
SNPshotrs397509418
SNPdbers397509418
MSV3drs397509418
GWAS Ctlgrs397509418
Max Magnitude0
ClinVar
Risk rs397509418(A;A)
Alt rs397509418(A;A)
Reference Rs397509418(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene TRAPPC11
CLNDBN Limb-girdle muscular dystrophy, type 2S not provided
Reversed 0
HGVS NC_000004.11:g.184605212G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054409.3, RCV000414573.1,