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rs797044667

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044667(-;A)
Make rs797044667(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22272930
GeneANO5
is asnp
is mentioned by
dbSNPrs797044667
ClinGenrs797044667
ebirs797044667
HLIrs797044667
Exacrs797044667
Varsomers797044667
Maprs797044667
PheGenIrs797044667
hapmaprs797044667
1000 genomesrs797044667
hgdprs797044667
ensemblrs797044667
gopubmedrs797044667
geneviewrs797044667
scholarrs797044667
googlers797044667
pharmgkbrs797044667
gwascentralrs797044667
openSNPrs797044667
23andMers797044667
23andMe allrs797044667
SNP Nexus

SNPshotrs797044667
SNPdbers797044667
MSV3drs797044667
GWAS Ctlgrs797044667
Max Magnitude0
ClinVar
Risk rs797044667(A;A)
Alt rs797044667(A;A)
Reference Rs797044667(;)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3
Reversed 0
HGVS NC_000011.9:g.22294476dupA
CLNSRC
CLNACC RCV000175502.1, RCV000175503.1,