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rs189923208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs189923208(A;A)
Make rs189923208(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position71551040
GeneDYSF
is asnp
is mentioned by
dbSNPrs189923208
dbSNP (old)rs189923208
ClinGenrs189923208
ebirs189923208
HLIrs189923208
Exacrs189923208
Gnomadrs189923208
Varsomers189923208
Maprs189923208
PheGenIrs189923208
Biobankrs189923208
1000 genomesrs189923208
hgdprs189923208
ensemblrs189923208
gopubmedrs189923208
geneviewrs189923208
scholarrs189923208
googlers189923208
pharmgkbrs189923208
gwascentralrs189923208
openSNPrs189923208
23andMers189923208
23andMe allrs189923208
SNPshotrs189923208
SNPdbers189923208
MSV3drs189923208
GWAS Ctlgrs189923208
Max Magnitude0
ClinVar
Risk rs189923208(A;A)
Alt rs189923208(A;A)
Reference Rs189923208(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.71778170G>A
CLNSRC
CLNACC RCV000260298.2,