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rs398124626

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124626(-;-)
Make rs398124626(-;T)
Make rs398124626(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position22250347
GeneANO5
is asnp
is mentioned by
dbSNPrs398124626
ebirs398124626
HLIrs398124626
Exacrs398124626
Varsomers398124626
Maprs398124626
PheGenIrs398124626
hapmaprs398124626
1000 genomesrs398124626
hgdprs398124626
ensemblrs398124626
gopubmedrs398124626
geneviewrs398124626
scholarrs398124626
googlers398124626
pharmgkbrs398124626
gwascentralrs398124626
openSNPrs398124626
23andMers398124626
23andMe allrs398124626
SNP Nexus

SNPshotrs398124626
SNPdbers398124626
MSV3drs398124626
GWAS Ctlgrs398124626
Max Magnitude0
ClinVar
Risk rs398124626(T;T)
Alt rs398124626(T;T)
Reference rs398124626(;)
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.22271893dupT
CLNSRC Quest Diagnostics
CLNACC RCV000082856.3, RCV000173930.1, RCV000173931.2,