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rs201869739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201869739(A;A)
Make rs201869739(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position71520209
GeneDYSF
is asnp
is mentioned by
dbSNPrs201869739
ebirs201869739
HLIrs201869739
Exacrs201869739
Varsomers201869739
Maprs201869739
PheGenIrs201869739
hapmaprs201869739
1000 genomesrs201869739
hgdprs201869739
ensemblrs201869739
gopubmedrs201869739
geneviewrs201869739
scholarrs201869739
googlers201869739
pharmgkbrs201869739
gwascentralrs201869739
openSNPrs201869739
23andMers201869739
23andMe allrs201869739
SNP Nexus

SNPshotrs201869739
SNPdbers201869739
MSV3drs201869739
GWAS Ctlgrs201869739
Max Magnitude0
ClinVar
Risk rs201869739(A;A)
Alt rs201869739(A;A)
Reference rs201869739(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.71747339G>A
CLNSRC HGMD
CLNACC RCV000080335.3, RCV000173782.1,