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rs142073798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142073798(A;A)
Make rs142073798(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22276177
GeneANO5
is asnp
is mentioned by
dbSNPrs142073798
dbSNP (classic)rs142073798
ClinGenrs142073798
ebirs142073798
HLIrs142073798
Exacrs142073798
Gnomadrs142073798
Varsomers142073798
LitVarrs142073798
Maprs142073798
PheGenIrs142073798
Biobankrs142073798
1000 genomesrs142073798
hgdprs142073798
ensemblrs142073798
geneviewrs142073798
scholarrs142073798
googlers142073798
pharmgkbrs142073798
gwascentralrs142073798
openSNPrs142073798
23andMers142073798
23andMe allrs142073798
SNPshotrs142073798
SNPdbers142073798
MSV3drs142073798
GWAS Ctlgrs142073798
Max Magnitude0
ClinVar
Risk rs142073798(A;A) rs142073798(G;G)
Alt rs142073798(A;A) rs142073798(G;G)
Reference Rs142073798(T;T)
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.22297723T>A
CLNSRC
CLNACC RCV000347528.1,