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rs797045950

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045950(-;CCT)
Make rs797045950(CCT;CCT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position25809107
GeneSEPN1
is asnp
is mentioned by
dbSNPrs797045950
ClinGenrs797045950
ebirs797045950
HLIrs797045950
Exacrs797045950
Varsomers797045950
Maprs797045950
PheGenIrs797045950
hapmaprs797045950
1000 genomesrs797045950
hgdprs797045950
ensemblrs797045950
gopubmedrs797045950
geneviewrs797045950
scholarrs797045950
googlers797045950
pharmgkbrs797045950
gwascentralrs797045950
openSNPrs797045950
23andMers797045950
23andMe allrs797045950
SNP Nexus

SNPshotrs797045950
SNPdbers797045950
MSV3drs797045950
GWAS Ctlgrs797045950
Max Magnitude0
ClinVar
Risk rs797045950(CCT;CCT)
Alt rs797045950(CCT;CCT)
Reference Rs797045950(;)
Significance Probable-Pathogenic
Disease Congenital myopathy with fiber type disproportion
Variation info
Gene SELENON
CLNDBN Congenital myopathy with fiber type disproportion
Reversed 0
HGVS NC_000001.10:g.26135596_26135598dupCCT
CLNSRC
CLNACC RCV000192616.1,