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rs398123786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123786(-;-)
Make rs398123786(-;C)
Make rs398123786(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position71612673
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123786
ebirs398123786
HLIrs398123786
Exacrs398123786
Varsomers398123786
Maprs398123786
PheGenIrs398123786
hapmaprs398123786
1000 genomesrs398123786
hgdprs398123786
ensemblrs398123786
gopubmedrs398123786
geneviewrs398123786
scholarrs398123786
googlers398123786
pharmgkbrs398123786
gwascentralrs398123786
openSNPrs398123786
23andMers398123786
23andMe allrs398123786
SNP Nexus

SNPshotrs398123786
SNPdbers398123786
MSV3drs398123786
GWAS Ctlgrs398123786
Max Magnitude0
ClinVar
Risk rs398123786(C;C)
Alt rs398123786(C;C)
Reference rs398123786(;)
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.71839803dupC
CLNSRC HGMD
CLNACC RCV000080286.3, RCV000177999.1,