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rs141497053

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141497053(A;A)
Make rs141497053(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71515660
GeneDYSF
is asnp
is mentioned by
dbSNPrs141497053
ebirs141497053
HLIrs141497053
Exacrs141497053
Varsomers141497053
Maprs141497053
PheGenIrs141497053
hapmaprs141497053
1000 genomesrs141497053
hgdprs141497053
ensemblrs141497053
gopubmedrs141497053
geneviewrs141497053
scholarrs141497053
googlers141497053
pharmgkbrs141497053
gwascentralrs141497053
openSNPrs141497053
23andMers141497053
23andMe allrs141497053
SNP Nexus

SNPshotrs141497053
SNPdbers141497053
MSV3drs141497053
GWAS Ctlgrs141497053
Max Magnitude0
ClinVar
Risk rs141497053(A;A)
Alt rs141497053(A;A)
Reference rs141497053(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71742790G>A
CLNSRC
CLNACC RCV000179859.1,