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rs752982710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752982710(-;-)
Make rs752982710(-;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22279543
GeneANO5
is asnp
is mentioned by
dbSNPrs752982710
dbSNP (classic)rs752982710
ClinGenrs752982710
ebirs752982710
HLIrs752982710
Exacrs752982710
Gnomadrs752982710
Varsomers752982710
LitVarrs752982710
Maprs752982710
PheGenIrs752982710
Biobankrs752982710
1000 genomesrs752982710
hgdprs752982710
ensemblrs752982710
geneviewrs752982710
scholarrs752982710
googlers752982710
pharmgkbrs752982710
gwascentralrs752982710
openSNPrs752982710
23andMers752982710
23andMe allrs752982710
SNPshotrs752982710
SNPdbers752982710
MSV3drs752982710
GWAS Ctlgrs752982710
Max Magnitude0
ClinVar
Risk rs752982710(-;-)
Alt rs752982710(-;-)
Reference Rs752982710(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.22301089delG
CLNSRC
CLNACC RCV000405726.1,