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rs387906882

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906882(A;A)
Make rs387906882(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870668
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs387906882
dbSNP (classic)rs387906882
ClinGenrs387906882
ebirs387906882
HLIrs387906882
Exacrs387906882
Gnomadrs387906882
Varsomers387906882
LitVarrs387906882
Maprs387906882
PheGenIrs387906882
Biobankrs387906882
1000 genomesrs387906882
hgdprs387906882
ensemblrs387906882
geneviewrs387906882
scholarrs387906882
googlers387906882
pharmgkbrs387906882
gwascentralrs387906882
openSNPrs387906882
23andMers387906882
SNPshotrs387906882
SNPdbers387906882
MSV3drs387906882
GWAS Ctlgrs387906882
Max Magnitude0
ClinVar
Risk rs387906882(A;A)
Alt rs387906882(A;A)
Reference Rs387906882(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene MYOT LOC101928005
CLNDBN Limb-girdle muscular dystrophy, type 1A
Reversed 0
HGVS NC_000005.9:g.137206357G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023360.3,