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rs121434510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434510(A;G)
Make rs121434510(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position9689034
GeneMTMR14
is asnp
is mentioned by
dbSNPrs121434510
dbSNP (classic)rs121434510
ClinGenrs121434510
ebirs121434510
HLIrs121434510
Exacrs121434510
Gnomadrs121434510
Varsomers121434510
LitVarrs121434510
Maprs121434510
PheGenIrs121434510
Biobankrs121434510
1000 genomesrs121434510
hgdprs121434510
ensemblrs121434510
geneviewrs121434510
scholarrs121434510
googlers121434510
pharmgkbrs121434510
gwascentralrs121434510
openSNPrs121434510
23andMers121434510
SNPshotrs121434510
SNPdbers121434510
MSV3drs121434510
GWAS Ctlgrs121434510
Max Magnitude0
OMIM611089
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434510(G;G)
Alt rs121434510(G;G)
Reference Rs121434510(A;A)
Significance Other
Disease MYOPATHY
Variation info
Gene MTMR14
CLNDBN MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF
Reversed 0
HGVS NC_000003.11:g.9730718A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001076.3,