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rs786205083

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205083(A;G)
Make rs786205083(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71590178
GeneDYSF
is asnp
is mentioned by
dbSNPrs786205083
ebirs786205083
HLIrs786205083
Exacrs786205083
Varsomers786205083
Maprs786205083
PheGenIrs786205083
hapmaprs786205083
1000 genomesrs786205083
hgdprs786205083
ensemblrs786205083
gopubmedrs786205083
geneviewrs786205083
scholarrs786205083
googlers786205083
pharmgkbrs786205083
gwascentralrs786205083
openSNPrs786205083
23andMers786205083
23andMe allrs786205083
SNP Nexus

SNPshotrs786205083
SNPdbers786205083
MSV3drs786205083
GWAS Ctlgrs786205083
Max Magnitude0
ClinVar
Risk rs786205083(G;G)
Alt rs786205083(G;G)
Reference rs786205083(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.71817308A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007067.3,