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rs398123800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123800(C;C)
Make rs398123800(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71513922
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123800
ebirs398123800
HLIrs398123800
Exacrs398123800
Varsomers398123800
Maprs398123800
PheGenIrs398123800
hapmaprs398123800
1000 genomesrs398123800
hgdprs398123800
ensemblrs398123800
gopubmedrs398123800
geneviewrs398123800
scholarrs398123800
googlers398123800
pharmgkbrs398123800
gwascentralrs398123800
openSNPrs398123800
23andMers398123800
23andMe allrs398123800
SNP Nexus

SNPshotrs398123800
SNPdbers398123800
MSV3drs398123800
GWAS Ctlgrs398123800
Max Magnitude0
ClinVar
Risk rs398123800(C;C)
Alt rs398123800(C;C)
Reference rs398123800(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.71741052G>C
CLNSRC HGMD
CLNACC RCV000080323.3, RCV000179423.1,