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rs398123790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123790(G;T)
Make rs398123790(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71664275
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123790
ebirs398123790
HLIrs398123790
Exacrs398123790
Varsomers398123790
Maprs398123790
PheGenIrs398123790
hapmaprs398123790
1000 genomesrs398123790
hgdprs398123790
ensemblrs398123790
gopubmedrs398123790
geneviewrs398123790
scholarrs398123790
googlers398123790
pharmgkbrs398123790
gwascentralrs398123790
openSNPrs398123790
23andMers398123790
23andMe allrs398123790
SNP Nexus

SNPshotrs398123790
SNPdbers398123790
MSV3drs398123790
GWAS Ctlgrs398123790
Max Magnitude0
ClinVar
Risk rs398123790(T;T)
Alt rs398123790(T;T)
Reference rs398123790(G;G)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71891405G>T
CLNSRC ClinVar Emory University
CLNACC RCV000080299.3, RCV000178574.1,