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rs137854524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854524(C;G)
Make rs137854524(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position22255485
GeneANO5
is asnp
is mentioned by
dbSNPrs137854524
ebirs137854524
HLIrs137854524
Exacrs137854524
Varsomers137854524
Maprs137854524
PheGenIrs137854524
hapmaprs137854524
1000 genomesrs137854524
hgdprs137854524
ensemblrs137854524
gopubmedrs137854524
geneviewrs137854524
scholarrs137854524
googlers137854524
pharmgkbrs137854524
gwascentralrs137854524
openSNPrs137854524
23andMers137854524
23andMe allrs137854524
SNP Nexus

SNPshotrs137854524
SNPdbers137854524
MSV3drs137854524
GWAS Ctlgrs137854524
Max Magnitude0
OMIM608662
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137854524(G;G)
Alt rs137854524(G;G)
Reference rs137854524(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided Miyoshi muscular dystrophy 3
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L not provided Miyoshi muscular dystrophy 3
Reversed 0
HGVS NC_000011.9:g.22277031C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002246.4, RCV000082843.4, RCV000174627.1,


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