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rs377215510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377215510(C;T)
Make rs377215510(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position25812720
GeneSEPN1
is asnp
is mentioned by
dbSNPrs377215510
ebirs377215510
HLIrs377215510
Exacrs377215510
Varsomers377215510
Maprs377215510
PheGenIrs377215510
hapmaprs377215510
1000 genomesrs377215510
hgdprs377215510
ensemblrs377215510
gopubmedrs377215510
geneviewrs377215510
scholarrs377215510
googlers377215510
pharmgkbrs377215510
gwascentralrs377215510
openSNPrs377215510
23andMers377215510
23andMe allrs377215510
SNP Nexus

SNPshotrs377215510
SNPdbers377215510
MSV3drs377215510
GWAS Ctlgrs377215510
Max Magnitude0
ClinVar
Risk rs377215510(T;T)
Alt rs377215510(T;T)
Reference rs377215510(C;C)
Significance Pathogenic
Disease not provided Eichsfeld type congenital muscular dystrophy
Variation info
Gene SEPN1
CLNDBN not provided Eichsfeld type congenital muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.26139211C>T
CLNSRC HGMD
CLNACC RCV000082011.3, RCV000173886.1,