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rs398123767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123767(-;-)
Make rs398123767(-;A)
Make rs398123767(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position71535306
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123767
ebirs398123767
HLIrs398123767
Exacrs398123767
Varsomers398123767
Maprs398123767
PheGenIrs398123767
hapmaprs398123767
1000 genomesrs398123767
hgdprs398123767
ensemblrs398123767
gopubmedrs398123767
geneviewrs398123767
scholarrs398123767
googlers398123767
pharmgkbrs398123767
gwascentralrs398123767
openSNPrs398123767
23andMers398123767
23andMe allrs398123767
SNP Nexus

SNPshotrs398123767
SNPdbers398123767
MSV3drs398123767
GWAS Ctlgrs398123767
Max Magnitude0
ClinVar
Risk rs398123767(A;A)
Alt rs398123767(A;A)
Reference rs398123767(;)
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.71762436dupA
CLNSRC HGMD
CLNACC RCV000080234.3, RCV000174883.1,