Have questions? Visit https://www.reddit.com/r/SNPedia

rs142027093

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142027093(A;A)
Make rs142027093(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22263044
GeneANO5
is asnp
is mentioned by
dbSNPrs142027093
ebirs142027093
HLIrs142027093
Exacrs142027093
Varsomers142027093
Maprs142027093
PheGenIrs142027093
hapmaprs142027093
1000 genomesrs142027093
hgdprs142027093
ensemblrs142027093
gopubmedrs142027093
geneviewrs142027093
scholarrs142027093
googlers142027093
pharmgkbrs142027093
gwascentralrs142027093
openSNPrs142027093
23andMers142027093
23andMe allrs142027093
SNP Nexus

SNPshotrs142027093
SNPdbers142027093
MSV3drs142027093
GWAS Ctlgrs142027093
Max Magnitude0
ClinVar
Risk rs142027093(A;A)
Alt rs142027093(A;A)
Reference rs142027093(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22284590G>A
CLNSRC
CLNACC RCV000175257.1,