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rs137854526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854526(C;C)
Make rs137854526(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22262231
GeneANO5
is asnp
is mentioned by
dbSNPrs137854526
dbSNP (old)rs137854526
ClinGenrs137854526
ebirs137854526
HLIrs137854526
Exacrs137854526
Gnomadrs137854526
Varsomers137854526
Maprs137854526
PheGenIrs137854526
Biobankrs137854526
1000 genomesrs137854526
hgdprs137854526
ensemblrs137854526
gopubmedrs137854526
geneviewrs137854526
scholarrs137854526
googlers137854526
pharmgkbrs137854526
gwascentralrs137854526
openSNPrs137854526
23andMers137854526
23andMe allrs137854526
SNPshotrs137854526
SNPdbers137854526
MSV3drs137854526
GWAS Ctlgrs137854526
Max Magnitude0
ClinVar
Risk rs137854526(C;C)
Alt rs137854526(C;C)
Reference Rs137854526(T;T)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN not provided Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22283777T>C
CLNSRC
CLNACC RCV000128774.1, RCV000405473.1,