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

rs727503909

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503909(-;-)
Make rs727503909(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71568307
GeneDYSF
is asnp
is mentioned by
dbSNPrs727503909
dbSNP (classic)rs727503909
ClinGenrs727503909
ebirs727503909
HLIrs727503909
Exacrs727503909
Gnomadrs727503909
Varsomers727503909
LitVarrs727503909
Maprs727503909
PheGenIrs727503909
Biobankrs727503909
1000 genomesrs727503909
hgdprs727503909
ensemblrs727503909
geneviewrs727503909
scholarrs727503909
googlers727503909
pharmgkbrs727503909
gwascentralrs727503909
openSNPrs727503909
23andMers727503909
SNPshotrs727503909
SNPdbers727503909
MSV3drs727503909
GWAS Ctlgrs727503909
Max Magnitude0
ClinVar
Risk rs727503909(-;-)
Alt rs727503909(-;-)
Reference Rs727503909(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B not provided Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71795437delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007072.7, RCV000153177.2, RCV000311139.1,