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rs151317754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151317754(A;A)
Make rs151317754(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position71561945
GeneDYSF
is asnp
is mentioned by
dbSNPrs151317754
dbSNP (old)rs151317754
ClinGenrs151317754
ebirs151317754
HLIrs151317754
Exacrs151317754
Gnomadrs151317754
Varsomers151317754
Maprs151317754
PheGenIrs151317754
Biobankrs151317754
1000 genomesrs151317754
hgdprs151317754
ensemblrs151317754
gopubmedrs151317754
geneviewrs151317754
scholarrs151317754
googlers151317754
pharmgkbrs151317754
gwascentralrs151317754
openSNPrs151317754
23andMers151317754
23andMe allrs151317754
SNPshotrs151317754
SNPdbers151317754
MSV3drs151317754
GWAS Ctlgrs151317754
Max Magnitude0
ClinVar
Risk rs151317754(A;A)
Alt rs151317754(A;A)
Reference Rs151317754(G;G)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71789075G>A
CLNSRC
CLNACC RCV000261362.2, RCV000349131.2,