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rs281865464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865464(A;A)
Make rs281865464(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position22257759
GeneANO5
is asnp
is mentioned by
dbSNPrs281865464
dbSNP (classic)rs281865464
ClinGenrs281865464
ebirs281865464
HLIrs281865464
Exacrs281865464
Gnomadrs281865464
Varsomers281865464
LitVarrs281865464
Maprs281865464
PheGenIrs281865464
Biobankrs281865464
1000 genomesrs281865464
hgdprs281865464
ensemblrs281865464
geneviewrs281865464
scholarrs281865464
googlers281865464
pharmgkbrs281865464
gwascentralrs281865464
openSNPrs281865464
23andMers281865464
SNPshotrs281865464
SNPdbers281865464
MSV3drs281865464
GWAS Ctlgrs281865464
Max Magnitude0
ClinVar
Risk rs281865464(A;A)
Alt rs281865464(A;A)
Reference Rs281865464(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.22279305G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032553.1,