Have questions? Visit https://www.reddit.com/r/SNPedia

rs7481951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs7481951(A;T)
Make rs7481951(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position22250324
GeneANO5
is asnp
is mentioned by
dbSNPrs7481951
dbSNP (classic)rs7481951
ClinGenrs7481951
ebirs7481951
HLIrs7481951
Exacrs7481951
Gnomadrs7481951
Varsomers7481951
LitVarrs7481951
Maprs7481951
PheGenIrs7481951
Biobankrs7481951
1000 genomesrs7481951
hgdprs7481951
ensemblrs7481951
geneviewrs7481951
scholarrs7481951
googlers7481951
pharmgkbrs7481951
gwascentralrs7481951
openSNPrs7481951
23andMers7481951
23andMe allrs7481951
SNPshotrs7481951
SNPdbers7481951
MSV3drs7481951
GWAS Ctlgrs7481951
GMAF0.3489
Max Magnitude0
? (A;A) (A;T) (T;T) 28



ClinVar
Risk rs7481951(C;C) rs7481951(G;G) rs7481951(T;T)
Alt rs7481951(C;C) rs7481951(G;G) rs7481951(T;T)
Reference Rs7481951(A;A)
Significance Probable-non-pathogenic
Disease not specified not provided Miyoshi myopathy Limb-Girdle Muscular Dystrophy
Variation info
Gene ANO5
CLNDBN not specified not provided Miyoshi myopathy Limb-Girdle Muscular Dystrophy, Recessive
Reversed 0
HGVS NC_000011.9:g.22271870A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000082855.9, RCV000128791.1, RCV000261985.1, RCV000386589.1,