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rs746873768

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746873768(C;T)
Make rs746873768(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71553092
GeneDYSF
is asnp
is mentioned by
dbSNPrs746873768
ebirs746873768
HLIrs746873768
Exacrs746873768
Varsomers746873768
Maprs746873768
PheGenIrs746873768
hapmaprs746873768
1000 genomesrs746873768
hgdprs746873768
ensemblrs746873768
gopubmedrs746873768
geneviewrs746873768
scholarrs746873768
googlers746873768
pharmgkbrs746873768
gwascentralrs746873768
openSNPrs746873768
23andMers746873768
23andMe allrs746873768
SNP Nexus

SNPshotrs746873768
SNPdbers746873768
MSV3drs746873768
GWAS Ctlgrs746873768
Max Magnitude0
ClinVar
Risk rs746873768(T;T)
Alt rs746873768(T;T)
Reference rs746873768(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71780222C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201076.1,