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rs121908960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908960(G;T)
Make rs121908960(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71553131
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908960
ebirs121908960
HLIrs121908960
Exacrs121908960
Varsomers121908960
Maprs121908960
PheGenIrs121908960
hapmaprs121908960
1000 genomesrs121908960
hgdprs121908960
ensemblrs121908960
gopubmedrs121908960
geneviewrs121908960
scholarrs121908960
googlers121908960
pharmgkbrs121908960
gwascentralrs121908960
openSNPrs121908960
23andMers121908960
23andMe allrs121908960
SNP Nexus

SNPshotrs121908960
SNPdbers121908960
MSV3drs121908960
GWAS Ctlgrs121908960
Max Magnitude0
OMIM603009
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908960(A,T;A,T)
Alt rs121908960(A,T;A,T)
Reference rs121908960(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.71780261G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007064.4,