Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908961

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908961(A;G)
Make rs121908961(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71667376
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908961
dbSNP (classic)rs121908961
ClinGenrs121908961
ebirs121908961
HLIrs121908961
Exacrs121908961
Gnomadrs121908961
Varsomers121908961
LitVarrs121908961
Maprs121908961
PheGenIrs121908961
Biobankrs121908961
1000 genomesrs121908961
hgdprs121908961
ensemblrs121908961
geneviewrs121908961
scholarrs121908961
googlers121908961
pharmgkbrs121908961
gwascentralrs121908961
openSNPrs121908961
23andMers121908961
SNPshotrs121908961
SNPdbers121908961
MSV3drs121908961
GWAS Ctlgrs121908961
Max Magnitude0
OMIM603009
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908961(G;G)
Alt rs121908961(G;G)
Reference Rs121908961(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.71894506A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007065.4,