rs368104077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(A;A) | 0 | common in clinvar |
Make rs368104077(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 25808755 |
Gene | SELENON |
is a | snp |
is | mentioned by |
dbSNP | rs368104077 |
dbSNP (classic) | rs368104077 |
ClinGen | rs368104077 |
ebi | rs368104077 |
HLI | rs368104077 |
Exac | rs368104077 |
Gnomad | rs368104077 |
Varsome | rs368104077 |
LitVar | rs368104077 |
Map | rs368104077 |
PheGenI | rs368104077 |
Biobank | rs368104077 |
1000 genomes | rs368104077 |
hgdp | rs368104077 |
ensembl | rs368104077 |
geneview | rs368104077 |
scholar | rs368104077 |
rs368104077 | |
pharmgkb | rs368104077 |
gwascentral | rs368104077 |
openSNP | rs368104077 |
23andMe | rs368104077 |
SNPshot | rs368104077 |
SNPdbe | rs368104077 |
MSV3d | rs368104077 |
GWAS Ctlg | rs368104077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs368104077(A;A) rs368104077(C;C) |
Alt | Rs368104077(A;A) rs368104077(C;C) |
Reference | Rs368104077(-;-) |
Significance | Pathogenic |
Disease | Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion not provided |
Variation | info |
Gene | SELENON |
CLNDBN | Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.26135246dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004751.4, RCV000178976.1, RCV000277917.2, |