rs794727808

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs794727808(C;C)

Make rs794727808(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

25809152

Gene

SELENON

is a	snp
is	mentioned by
dbSNP	rs794727808
dbSNP (classic)	rs794727808
ClinGen	rs794727808
ebi	rs794727808
HLI	rs794727808
Exac	rs794727808
Gnomad	rs794727808
Varsome	rs794727808
LitVar	rs794727808
Map	rs794727808
PheGenI	rs794727808
Biobank	rs794727808
1000 genomes	rs794727808
hgdp	rs794727808
ensembl	rs794727808
geneview	rs794727808
scholar	rs794727808
google	rs794727808
pharmgkb	rs794727808
gwascentral	rs794727808
openSNP	rs794727808
23andMe	rs794727808
SNPshot	rs794727808
SNPdbe	rs794727808
MSV3d	rs794727808
GWAS Ctlg	rs794727808

Max Magnitude

0

ClinVar
Risk	rs794727808(C;C)
Alt	rs794727808(C;C)
Reference	Rs794727808(T;T)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy
Variation	info
Gene	SELENON
CLNDBN	Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy
Reversed	0
HGVS	NC_000001.10:g.26135643T>C
CLNSRC
CLNACC	RCV000179510.1, RCV000179511.1,