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rs137854529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854529(C;T)
Make rs137854529(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position22274605
GeneANO5
is asnp
is mentioned by
dbSNPrs137854529
ebirs137854529
HLIrs137854529
Exacrs137854529
Varsomers137854529
Maprs137854529
PheGenIrs137854529
hapmaprs137854529
1000 genomesrs137854529
hgdprs137854529
ensemblrs137854529
gopubmedrs137854529
geneviewrs137854529
scholarrs137854529
googlers137854529
pharmgkbrs137854529
gwascentralrs137854529
openSNPrs137854529
23andMers137854529
23andMe allrs137854529
SNP Nexus

SNPshotrs137854529
SNPdbers137854529
MSV3drs137854529
GWAS Ctlgrs137854529
GMAF0.0009183
Max Magnitude0
OMIM608662
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137854529(T;T)
Alt rs137854529(T;T)
Reference rs137854529(C;C)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy not provided
Variation info
Gene ANO5
CLNDBN Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L not provided
Reversed 0
HGVS NC_000011.9:g.22296151C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002250.2, RCV000032966.3, RCV000128778.1,


[PMID 20096397OA-icon.png] Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

[PMID 21186264OA-icon.png] A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.