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rs121908964

From SNPedia

Merged intors121908963
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908964(G;T)
Make rs121908964(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71517028
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908964
ebirs121908964
HLIrs121908964
Exacrs121908964
Varsomers121908964
Maprs121908964
PheGenIrs121908964
hapmaprs121908964
1000 genomesrs121908964
hgdprs121908964
ensemblrs121908964
gopubmedrs121908964
geneviewrs121908964
scholarrs121908964
googlers121908964
pharmgkbrs121908964
gwascentralrs121908964
openSNPrs121908964
23andMers121908964
23andMe allrs121908964
SNP Nexus

SNPshotrs121908964
SNPdbers121908964
MSV3drs121908964
GWAS Ctlgrs121908964
StatusMerged into rs121908963
Max Magnitude0
OMIM603009
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908964(T;T)
Alt rs121908964(T;T)
Reference rs121908964(G;G)
Significance Pathogenic
Disease Miyoshi myopathy
Variation info
Gene DYSF
CLNDBN Miyoshi myopathy
Reversed 0
HGVS NC_000002.11:g.71744158G>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000027265.1,