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rs398124625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124625(A;A)
Make rs398124625(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position22203803
GeneANO5
is asnp
is mentioned by
dbSNPrs398124625
ebirs398124625
HLIrs398124625
Exacrs398124625
Varsomers398124625
Maprs398124625
PheGenIrs398124625
hapmaprs398124625
1000 genomesrs398124625
hgdprs398124625
ensemblrs398124625
gopubmedrs398124625
geneviewrs398124625
scholarrs398124625
googlers398124625
pharmgkbrs398124625
gwascentralrs398124625
openSNPrs398124625
23andMers398124625
23andMe allrs398124625
SNP Nexus

SNPshotrs398124625
SNPdbers398124625
MSV3drs398124625
GWAS Ctlgrs398124625
Max Magnitude0
ClinVar
Risk rs398124625(A;A)
Alt rs398124625(A;A)
Reference rs398124625(G;G)
Significance Pathogenic
Disease not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22225349G>A
CLNSRC Quest Diagnostics
CLNACC RCV000082852.3, RCV000176018.1, RCV000176019.2,