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rs878854367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854367(-;-)
Make rs878854367(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position22226041
GeneANO5
is asnp
is mentioned by
dbSNPrs878854367
dbSNP (classic)rs878854367
ClinGenrs878854367
ebirs878854367
HLIrs878854367
Exacrs878854367
Gnomadrs878854367
Varsomers878854367
LitVarrs878854367
Maprs878854367
PheGenIrs878854367
Biobankrs878854367
1000 genomesrs878854367
hgdprs878854367
ensemblrs878854367
geneviewrs878854367
scholarrs878854367
googlers878854367
pharmgkbrs878854367
gwascentralrs878854367
openSNPrs878854367
23andMers878854367
SNPshotrs878854367
SNPdbers878854367
MSV3drs878854367
GWAS Ctlgrs878854367
Max Magnitude0
ClinVar
Risk rs878854367(-;-)
Alt rs878854367(-;-)
Reference Rs878854367(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22247587delG
CLNSRC
CLNACC RCV000233000.1,