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rs398123792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123792(A;C)
Make rs398123792(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position71668752
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123792
ebirs398123792
HLIrs398123792
Exacrs398123792
Varsomers398123792
Maprs398123792
PheGenIrs398123792
hapmaprs398123792
1000 genomesrs398123792
hgdprs398123792
ensemblrs398123792
gopubmedrs398123792
geneviewrs398123792
scholarrs398123792
googlers398123792
pharmgkbrs398123792
gwascentralrs398123792
openSNPrs398123792
23andMers398123792
23andMe allrs398123792
SNP Nexus

SNPshotrs398123792
SNPdbers398123792
MSV3drs398123792
GWAS Ctlgrs398123792
Max Magnitude0
ClinVar
Risk rs398123792(C;C)
Alt rs398123792(C;C)
Reference rs398123792(A;A)
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.71895882A>C
CLNSRC ClinVar
CLNACC RCV000080302.3, RCV000178660.1,