rs121908183

Orientation

plus

Stabilized

plus

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

Make rs121908183(-;-)

Make rs121908183(-;TGA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

25812789

Gene

SELENON

is a	snp
is	mentioned by
dbSNP	rs121908183
dbSNP (classic)	rs121908183
ClinGen	rs121908183
ebi	rs121908183
HLI	rs121908183
Exac	rs121908183
Gnomad	rs121908183
Varsome	rs121908183
LitVar	rs121908183
Map	rs121908183
PheGenI	rs121908183
Biobank	rs121908183
1000 genomes	rs121908183
hgdp	rs121908183
ensembl	rs121908183
geneview	rs121908183
scholar	rs121908183
google	rs121908183
pharmgkb	rs121908183
gwascentral	rs121908183
openSNP	rs121908183
23andMe	rs121908183
SNPshot	rs121908183
SNPdbe	rs121908183
MSV3d	rs121908183
GWAS Ctlg	rs121908183

Max Magnitude

0

OMIM	606210
Desc
Variant	0002
Related	also

ClinVar
Risk
Alt
Reference	Rs121908183(TGA;TGA)
Significance	Pathogenic
Disease	Eichsfeld type congenital muscular dystrophy
Variation	info
Gene	SEPN1
CLNDBN	Eichsfeld type congenital muscular dystrophy
Reversed	0
HGVS	NC_000001.10:g.26139280_26139282delTGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004747.1,