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rs143777403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143777403(A;G)
Make rs143777403(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22218262
GeneANO5
is asnp
is mentioned by
dbSNPrs143777403
dbSNP (classic)rs143777403
ClinGenrs143777403
ebirs143777403
HLIrs143777403
Exacrs143777403
Gnomadrs143777403
Varsomers143777403
LitVarrs143777403
Maprs143777403
PheGenIrs143777403
Biobankrs143777403
1000 genomesrs143777403
hgdprs143777403
ensemblrs143777403
geneviewrs143777403
scholarrs143777403
googlers143777403
pharmgkbrs143777403
gwascentralrs143777403
openSNPrs143777403
23andMers143777403
SNPshotrs143777403
SNPdbers143777403
MSV3drs143777403
GWAS Ctlgrs143777403
Max Magnitude0
ClinVar
Risk rs143777403(G;G)
Alt rs143777403(G;G)
Reference Rs143777403(A;A)
Significance Probable-Pathogenic
Disease not specified Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3
Variation info
Gene ANO5
CLNDBN not specified Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3
Reversed 0
HGVS NC_000011.9:g.22239808A>G
CLNSRC
CLNACC RCV000178421.3, RCV000200720.1,