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rs794727158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727158(-;-)
Make rs794727158(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22259631
GeneANO5
is asnp
is mentioned by
dbSNPrs794727158
dbSNP (classic)rs794727158
ClinGenrs794727158
ebirs794727158
HLIrs794727158
Exacrs794727158
Gnomadrs794727158
Varsomers794727158
LitVarrs794727158
Maprs794727158
PheGenIrs794727158
Biobankrs794727158
1000 genomesrs794727158
hgdprs794727158
ensemblrs794727158
geneviewrs794727158
scholarrs794727158
googlers794727158
pharmgkbrs794727158
gwascentralrs794727158
openSNPrs794727158
23andMers794727158
SNPshotrs794727158
SNPdbers794727158
MSV3drs794727158
GWAS Ctlgrs794727158
Max Magnitude0
ClinVar
Risk rs794727158(-;-)
Alt rs794727158(-;-)
Reference Rs794727158(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.22281177delT
CLNSRC
CLNACC RCV000174967.1,