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rs794727350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(I;I) 0 common genotype
(TTC;TTC) 0 common in clinvar
Make rs794727350(-;-)
Make rs794727350(-;TTC)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22276182
GeneANO5
is asnp
is mentioned by
dbSNPrs794727350
dbSNP (classic)rs794727350
ClinGenrs794727350
ebirs794727350
HLIrs794727350
Exacrs794727350
Gnomadrs794727350
Varsomers794727350
LitVarrs794727350
Maprs794727350
PheGenIrs794727350
Biobankrs794727350
1000 genomesrs794727350
hgdprs794727350
ensemblrs794727350
geneviewrs794727350
scholarrs794727350
googlers794727350
pharmgkbrs794727350
gwascentralrs794727350
openSNPrs794727350
23andMers794727350
23andMe allrs794727350
SNPshotrs794727350
SNPdbers794727350
MSV3drs794727350
GWAS Ctlgrs794727350
Max Magnitude0
ClinVar
Risk rs794727350(-;-) Rs794727350(CTT;CTT)
Alt rs794727350(-;-) Rs794727350(CTT;CTT)
Reference Rs794727350(TTC;TTC)
Significance Probable-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.22297728_22297730delTTC
CLNSRC
CLNACC RCV000176243.2, RCV000303709.1,