rs797044621

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(I;I)	0	common genotype

Make rs797044621(-;CGGCCGGGCC)

Make rs797044621(CGGCCGGGCC;CGGCCGGGCC)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

25800252

Gene

SELENON

is a	snp
is	mentioned by
dbSNP	rs797044621
dbSNP (classic)	rs797044621
ClinGen	rs797044621
ebi	rs797044621
HLI	rs797044621
Exac	rs797044621
Gnomad	rs797044621
Varsome	rs797044621
LitVar	rs797044621
Map	rs797044621
PheGenI	rs797044621
Biobank	rs797044621
1000 genomes	rs797044621
hgdp	rs797044621
ensembl	rs797044621
geneview	rs797044621
scholar	rs797044621
google	rs797044621
pharmgkb	rs797044621
gwascentral	rs797044621
openSNP	rs797044621
23andMe	rs797044621
SNPshot	rs797044621
SNPdbe	rs797044621
MSV3d	rs797044621
GWAS Ctlg	rs797044621

Max Magnitude

0

ClinVar
Risk	rs797044621(GGCCGGGCCC;GGCCGGGCCC)
Alt	rs797044621(GGCCGGGCCC;GGCCGGGCCC)
Reference	Rs797044621(-;-)
Significance	Pathogenic
Disease	Eichsfeld type congenital muscular dystrophy
Variation	info
Gene	SELENON
CLNDBN	Eichsfeld type congenital muscular dystrophy
Reversed	0
HGVS	NC_000001.10:g.26126734_26126743dupCGGCCGGGCC
CLNSRC
CLNACC	RCV000173501.1,