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rs786200897

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200897(A;G)
Make rs786200897(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71535019
GeneDYSF
is asnp
is mentioned by
dbSNPrs786200897
ebirs786200897
HLIrs786200897
Exacrs786200897
Varsomers786200897
Maprs786200897
PheGenIrs786200897
hapmaprs786200897
1000 genomesrs786200897
hgdprs786200897
ensemblrs786200897
gopubmedrs786200897
geneviewrs786200897
scholarrs786200897
googlers786200897
pharmgkbrs786200897
gwascentralrs786200897
openSNPrs786200897
23andMers786200897
23andMe allrs786200897
SNP Nexus

SNPshotrs786200897
SNPdbers786200897
MSV3drs786200897
GWAS Ctlgrs786200897
Max Magnitude0
ClinVar
Risk rs786200897(G;G)
Alt rs786200897(G;G)
Reference rs786200897(A;A)
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.71762149A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007070.4,