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rs587777431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777431(C;G)
Make rs587777431(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position128970293
GeneTNPO3
is asnp
is mentioned by
dbSNPrs587777431
ebirs587777431
HLIrs587777431
Exacrs587777431
Varsomers587777431
Maprs587777431
PheGenIrs587777431
hapmaprs587777431
1000 genomesrs587777431
hgdprs587777431
ensemblrs587777431
gopubmedrs587777431
geneviewrs587777431
scholarrs587777431
googlers587777431
pharmgkbrs587777431
gwascentralrs587777431
openSNPrs587777431
23andMers587777431
23andMe allrs587777431
SNP Nexus

SNPshotrs587777431
SNPdbers587777431
MSV3drs587777431
GWAS Ctlgrs587777431
Max Magnitude0
ClinVar
Risk rs587777431(G,T;G,T)
Alt rs587777431(G,T;G,T)
Reference rs587777431(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene TNPO3
CLNDBN Limb-girdle muscular dystrophy, type 1F
Reversed 0
HGVS NC_000007.13:g.128610347C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000122739.2,