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rs587777430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777430(-;-)
Make rs587777430(-;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position128957256
GeneTNPO3
is asnp
is mentioned by
dbSNPrs587777430
ebirs587777430
HLIrs587777430
Exacrs587777430
Varsomers587777430
Maprs587777430
PheGenIrs587777430
hapmaprs587777430
1000 genomesrs587777430
hgdprs587777430
ensemblrs587777430
gopubmedrs587777430
geneviewrs587777430
scholarrs587777430
googlers587777430
pharmgkbrs587777430
gwascentralrs587777430
openSNPrs587777430
23andMers587777430
23andMe allrs587777430
SNP Nexus

SNPshotrs587777430
SNPdbers587777430
MSV3drs587777430
GWAS Ctlgrs587777430
Max Magnitude0
ClinVar
Risk rs587777430(TG,G;TG,G)
Alt rs587777430(TG,G;TG,G)
Reference rs587777430(AG;AG)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene TNPO3
CLNDBN Limb-girdle muscular dystrophy, type 1F
Reversed 1
HGVS NC_000007.13:g.128597310delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000122738.2,