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rs137854523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854523(G;T)
Make rs137854523(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position22236206
GeneANO5
is asnp
is mentioned by
dbSNPrs137854523
ebirs137854523
HLIrs137854523
Exacrs137854523
Varsomers137854523
Maprs137854523
PheGenIrs137854523
hapmaprs137854523
1000 genomesrs137854523
hgdprs137854523
ensemblrs137854523
gopubmedrs137854523
geneviewrs137854523
scholarrs137854523
googlers137854523
pharmgkbrs137854523
gwascentralrs137854523
openSNPrs137854523
23andMers137854523
23andMe allrs137854523
SNP Nexus

SNPshotrs137854523
SNPdbers137854523
MSV3drs137854523
GWAS Ctlgrs137854523
GMAF0.0004591
Max Magnitude0
OMIM608662
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137854523(T;T)
Alt rs137854523(T;T)
Reference rs137854523(G;G)
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.22257752G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002249.2, RCV000082853.4, RCV000180402.1,


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