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rs786205084

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205084(A;A)
Make rs786205084(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71668842
GeneDYSF
is asnp
is mentioned by
dbSNPrs786205084
ebirs786205084
HLIrs786205084
Exacrs786205084
Varsomers786205084
Maprs786205084
PheGenIrs786205084
hapmaprs786205084
1000 genomesrs786205084
hgdprs786205084
ensemblrs786205084
gopubmedrs786205084
geneviewrs786205084
scholarrs786205084
googlers786205084
pharmgkbrs786205084
gwascentralrs786205084
openSNPrs786205084
23andMers786205084
23andMe allrs786205084
SNP Nexus

SNPshotrs786205084
SNPdbers786205084
MSV3drs786205084
GWAS Ctlgrs786205084
Max Magnitude0
ClinVar
Risk rs786205084(A;A)
Alt rs786205084(A;A)
Reference rs786205084(G;G)
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.71895972G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007073.5,