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

rs886043327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTAACTTAACA;TTAACTTAACA) 0 common in clinvar
Chromosome11
Position22262117
GeneANO5
is asnp
is mentioned by
dbSNPrs886043327
dbSNP (classic)rs886043327
ClinGenrs886043327
ebirs886043327
HLIrs886043327
Exacrs886043327
Gnomadrs886043327
Varsomers886043327
LitVarrs886043327
Maprs886043327
PheGenIrs886043327
Biobankrs886043327
1000 genomesrs886043327
hgdprs886043327
ensemblrs886043327
geneviewrs886043327
scholarrs886043327
googlers886043327
pharmgkbrs886043327
gwascentralrs886043327
openSNPrs886043327
23andMers886043327
23andMe allrs886043327
SNPshotrs886043327
SNPdbers886043327
MSV3drs886043327
GWAS Ctlgrs886043327
Max Magnitude0
ClinVar
Risk rs886043327(-;-)
Alt rs886043327(-;-)
Reference Rs886043327(TTAACTTAACA;TTAACTTAACA)
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.22283663_22283673delTTAACTTAACA
CLNSRC
CLNACC RCV000291356.1, RCV000344005.1, RCV000481085.1,