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rs375014127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375014127(G;T)
Make rs375014127(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position22262162
GeneANO5
is asnp
is mentioned by
dbSNPrs375014127
dbSNP (classic)rs375014127
ClinGenrs375014127
ebirs375014127
HLIrs375014127
Exacrs375014127
Gnomadrs375014127
Varsomers375014127
LitVarrs375014127
Maprs375014127
PheGenIrs375014127
Biobankrs375014127
1000 genomesrs375014127
hgdprs375014127
ensemblrs375014127
geneviewrs375014127
scholarrs375014127
googlers375014127
pharmgkbrs375014127
gwascentralrs375014127
openSNPrs375014127
23andMers375014127
SNPshotrs375014127
SNPdbers375014127
MSV3drs375014127
GWAS Ctlgrs375014127
Max Magnitude0
ClinVar
Risk rs375014127(A;A) rs375014127(T;T)
Alt rs375014127(A;A) rs375014127(T;T)
Reference Rs375014127(G;G)
Significance Probable-Pathogenic
Disease not specified Myopathy
Variation info
Gene ANO5
CLNDBN not specified Myopathy
Reversed 0
HGVS NC_000011.9:g.22283708G>T
CLNSRC
CLNACC RCV000402511.1, RCV000414780.1,