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rs1057518855

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518855(-;T)
Make rs1057518855(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position22270444
GeneANO5
is asnp
is mentioned by
dbSNPrs1057518855
dbSNP (classic)rs1057518855
ClinGenrs1057518855
ebirs1057518855
HLIrs1057518855
Exacrs1057518855
Gnomadrs1057518855
Varsomers1057518855
LitVarrs1057518855
Maprs1057518855
PheGenIrs1057518855
Biobankrs1057518855
1000 genomesrs1057518855
hgdprs1057518855
ensemblrs1057518855
geneviewrs1057518855
scholarrs1057518855
googlers1057518855
pharmgkbrs1057518855
gwascentralrs1057518855
openSNPrs1057518855
23andMers1057518855
23andMe allrs1057518855
SNPshotrs1057518855
SNPdbers1057518855
MSV3drs1057518855
GWAS Ctlgrs1057518855
Max Magnitude0
ClinVar
Risk rs1057518855(T;T)
Alt rs1057518855(T;T)
Reference Rs1057518855(-;-)
Significance Probable-Pathogenic
Disease Myopathy
Variation info
Gene ANO5
CLNDBN Myopathy
Reversed 0
HGVS NC_000011.9:g.22291990dupT
CLNSRC
CLNACC RCV000414813.1,