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rs886042442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome11
Position22272990
GeneANO5
is asnp
is mentioned by
dbSNPrs886042442
dbSNP (classic)rs886042442
ClinGenrs886042442
ebirs886042442
HLIrs886042442
Exacrs886042442
Gnomadrs886042442
Varsomers886042442
LitVarrs886042442
Maprs886042442
PheGenIrs886042442
Biobankrs886042442
1000 genomesrs886042442
hgdprs886042442
ensemblrs886042442
geneviewrs886042442
scholarrs886042442
googlers886042442
pharmgkbrs886042442
gwascentralrs886042442
openSNPrs886042442
23andMers886042442
SNPshotrs886042442
SNPdbers886042442
MSV3drs886042442
GWAS Ctlgrs886042442
Max Magnitude0
ClinVar
Risk rs886042442(A;A)
Alt rs886042442(A;A)
Reference Rs886042442(G;G)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 3
Variation info
Gene ANO5
CLNDBN Miyoshi muscular dystrophy 3
Reversed 0
HGVS NC_000011.9:g.22294536G>A
CLNSRC
CLNACC RCV000361617.1,