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rs786200896

From SNPedia

Orientationplus
Geno Mag Summary
(GCCCG;GCCCG) 0 common in clinvar
Make rs786200896(CCCC;CCCC)
Make rs786200896(CCCC;GCCCG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71660637
GeneDYSF
is asnp
is mentioned by
dbSNPrs786200896
ebirs786200896
HLIrs786200896
Exacrs786200896
Varsomers786200896
Maprs786200896
PheGenIrs786200896
hapmaprs786200896
1000 genomesrs786200896
hgdprs786200896
ensemblrs786200896
gopubmedrs786200896
geneviewrs786200896
scholarrs786200896
googlers786200896
pharmgkbrs786200896
gwascentralrs786200896
openSNPrs786200896
23andMers786200896
23andMe allrs786200896
SNP Nexus

SNPshotrs786200896
SNPdbers786200896
MSV3drs786200896
GWAS Ctlgrs786200896
Max Magnitude0
ClinVar
Risk rs786200896(CCCC;CCCC)
Alt rs786200896(CCCC;CCCC)
Reference rs786200896(GCCCG;GCCCG)
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.71887767_71887771delGCCCGinsCCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007053.4,