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rs368104077

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs368104077(-;-)
Make rs368104077(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position25808755
GeneSEPN1
is asnp
is mentioned by
dbSNPrs368104077
ebirs368104077
HLIrs368104077
Exacrs368104077
Varsomers368104077
Maprs368104077
PheGenIrs368104077
hapmaprs368104077
1000 genomesrs368104077
hgdprs368104077
ensemblrs368104077
gopubmedrs368104077
geneviewrs368104077
scholarrs368104077
googlers368104077
pharmgkbrs368104077
gwascentralrs368104077
openSNPrs368104077
23andMers368104077
23andMe allrs368104077
SNP Nexus

SNPshotrs368104077
SNPdbers368104077
MSV3drs368104077
GWAS Ctlgrs368104077
Max Magnitude0
ClinVar
Risk rs368104077(AA,AC;AA,AC)
Alt rs368104077(AA,AC;AA,AC)
Reference rs368104077(A;A)
Significance Pathogenic
Disease Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion
Variation info
Gene SEPN1
CLNDBN Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion
Reversed 0
HGVS NC_000001.10:g.26135246dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004751.4, RCV000178976.1,