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rs201592500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201592500(G;T)
Make rs201592500(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71669179
GeneDYSF
is asnp
is mentioned by
dbSNPrs201592500
ebirs201592500
HLIrs201592500
Exacrs201592500
Varsomers201592500
Maprs201592500
PheGenIrs201592500
hapmaprs201592500
1000 genomesrs201592500
hgdprs201592500
ensemblrs201592500
gopubmedrs201592500
geneviewrs201592500
scholarrs201592500
googlers201592500
pharmgkbrs201592500
gwascentralrs201592500
openSNPrs201592500
23andMers201592500
23andMe allrs201592500
SNP Nexus

SNPshotrs201592500
SNPdbers201592500
MSV3drs201592500
GWAS Ctlgrs201592500
Max Magnitude0
ClinVar
Risk rs201592500(A,T;A,T)
Alt rs201592500(A,T;A,T)
Reference rs201592500(G;G)
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.71896309G>T
CLNSRC HGMD
CLNACC RCV000080305.3, RCV000178687.1,