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rs34997054

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34997054(C;T)
Make rs34997054(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position71511847
GeneDYSF
is asnp
is mentioned by
dbSNPrs34997054
ebirs34997054
HLIrs34997054
Exacrs34997054
Varsomers34997054
Maprs34997054
PheGenIrs34997054
hapmaprs34997054
1000 genomesrs34997054
hgdprs34997054
ensemblrs34997054
gopubmedrs34997054
geneviewrs34997054
scholarrs34997054
googlers34997054
pharmgkbrs34997054
gwascentralrs34997054
openSNPrs34997054
23andMers34997054
23andMe allrs34997054
SNP Nexus

SNPshotrs34997054
SNPdbers34997054
MSV3drs34997054
GWAS Ctlgrs34997054
Max Magnitude0
ClinVar
Risk rs34997054(T;T)
Alt rs34997054(T;T)
Reference rs34997054(C;C)
Significance Probable-Pathogenic
Disease not specified Inborn genetic diseases
Variation info
Gene DYSF
CLNDBN not specified Inborn genetic diseases
Reversed 1
HGVS NC_000002.11:g.71738977G>A
CLNSRC
CLNACC RCV000080277.5, RCV000210633.1,