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rs745891180

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs745891180(A;A)
Make rs745891180(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position71664443
GeneDYSF
is asnp
is mentioned by
dbSNPrs745891180
ebirs745891180
HLIrs745891180
Exacrs745891180
Varsomers745891180
Maprs745891180
PheGenIrs745891180
hapmaprs745891180
1000 genomesrs745891180
hgdprs745891180
ensemblrs745891180
gopubmedrs745891180
geneviewrs745891180
scholarrs745891180
googlers745891180
pharmgkbrs745891180
gwascentralrs745891180
openSNPrs745891180
23andMers745891180
23andMe allrs745891180
SNP Nexus

SNPshotrs745891180
SNPdbers745891180
MSV3drs745891180
GWAS Ctlgrs745891180
Max Magnitude0
ClinVar
Risk rs745891180(A;A)
Alt rs745891180(A;A)
Reference rs745891180(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71891573G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007057.3,