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rs281865480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs281865480(-;A)
Make rs281865480(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22259738
GeneANO5
is asnp
is mentioned by
dbSNPrs281865480
dbSNP (classic)rs281865480
ClinGenrs281865480
ebirs281865480
HLIrs281865480
Exacrs281865480
Gnomadrs281865480
Varsomers281865480
LitVarrs281865480
Maprs281865480
PheGenIrs281865480
Biobankrs281865480
1000 genomesrs281865480
hgdprs281865480
ensemblrs281865480
geneviewrs281865480
scholarrs281865480
googlers281865480
pharmgkbrs281865480
gwascentralrs281865480
openSNPrs281865480
23andMers281865480
23andMe allrs281865480
SNPshotrs281865480
SNPdbers281865480
MSV3drs281865480
GWAS Ctlgrs281865480
Max Magnitude0
ClinVar
Risk rs281865480(A;A)
Alt rs281865480(A;A)
Reference Rs281865480(-;-)
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.22281284dupA
CLNSRC
CLNACC RCV000327025.1,