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rs398123770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123770(A;A)
Make rs398123770(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71549349
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123770
ebirs398123770
HLIrs398123770
Exacrs398123770
Varsomers398123770
Maprs398123770
PheGenIrs398123770
hapmaprs398123770
1000 genomesrs398123770
hgdprs398123770
ensemblrs398123770
gopubmedrs398123770
geneviewrs398123770
scholarrs398123770
googlers398123770
pharmgkbrs398123770
gwascentralrs398123770
openSNPrs398123770
23andMers398123770
23andMe allrs398123770
SNP Nexus

SNPshotrs398123770
SNPdbers398123770
MSV3drs398123770
GWAS Ctlgrs398123770
Max Magnitude0
ClinVar
Risk rs398123770(A;A)
Alt rs398123770(A;A)
Reference rs398123770(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.71776479G>A
CLNSRC HGMD
CLNACC RCV000080237.3, RCV000175175.1,