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rs398124360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124360(G;T)
Make rs398124360(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position25801161
GeneSEPN1
is asnp
is mentioned by
dbSNPrs398124360
ebirs398124360
HLIrs398124360
Exacrs398124360
Varsomers398124360
Maprs398124360
PheGenIrs398124360
hapmaprs398124360
1000 genomesrs398124360
hgdprs398124360
ensemblrs398124360
gopubmedrs398124360
geneviewrs398124360
scholarrs398124360
googlers398124360
pharmgkbrs398124360
gwascentralrs398124360
openSNPrs398124360
23andMers398124360
23andMe allrs398124360
SNP Nexus

SNPshotrs398124360
SNPdbers398124360
MSV3drs398124360
GWAS Ctlgrs398124360
Max Magnitude0
ClinVar
Risk rs398124360(T;T)
Alt rs398124360(T;T)
Reference Rs398124360(G;G)
Significance Pathogenic
Disease not provided Eichsfeld type congenital muscular dystrophy
Variation info
Gene SELENON
CLNDBN not provided Eichsfeld type congenital muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.26127652G>T
CLNSRC ClinVar
CLNACC RCV000082015.3, RCV000175927.1,