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rs727503915

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503915(A;A)
Make rs727503915(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71669208
GeneDYSF
is asnp
is mentioned by
dbSNPrs727503915
ebirs727503915
HLIrs727503915
Exacrs727503915
Varsomers727503915
Maprs727503915
PheGenIrs727503915
hapmaprs727503915
1000 genomesrs727503915
hgdprs727503915
ensemblrs727503915
gopubmedrs727503915
geneviewrs727503915
scholarrs727503915
googlers727503915
pharmgkbrs727503915
gwascentralrs727503915
openSNPrs727503915
23andMers727503915
23andMe allrs727503915
SNP Nexus

SNPshotrs727503915
SNPdbers727503915
MSV3drs727503915
GWAS Ctlgrs727503915
Max Magnitude0
ClinVar
Risk rs727503915(A;A)
Alt rs727503915(A;A)
Reference rs727503915(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.71896338G>A
CLNSRC HGMD
CLNACC RCV000153188.2, RCV000178689.1,