Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503911

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503911(C;T)
Make rs727503911(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71600831
GeneDYSF
is asnp
is mentioned by
dbSNPrs727503911
ebirs727503911
HLIrs727503911
Exacrs727503911
Varsomers727503911
Maprs727503911
PheGenIrs727503911
hapmaprs727503911
1000 genomesrs727503911
hgdprs727503911
ensemblrs727503911
gopubmedrs727503911
geneviewrs727503911
scholarrs727503911
googlers727503911
pharmgkbrs727503911
gwascentralrs727503911
openSNPrs727503911
23andMers727503911
23andMe allrs727503911
SNP Nexus

SNPshotrs727503911
SNPdbers727503911
MSV3drs727503911
GWAS Ctlgrs727503911
Max Magnitude0
ClinVar
Risk rs727503911(T;T)
Alt rs727503911(T;T)
Reference rs727503911(C;C)
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.71827961C>T
CLNSRC HGMD
CLNACC RCV000153182.2, RCV000177776.1,