rs587777820
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGA;TGA) | 0 | common in clinvar |
Make rs587777820(-;-) |
Make rs587777820(-;ATG) |
Make rs587777820(ATG;ATG) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 131507505 |
Gene | POMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777820 |
dbSNP (classic) | rs587777820 |
ClinGen | rs587777820 |
ebi | rs587777820 |
HLI | rs587777820 |
Exac | rs587777820 |
Gnomad | rs587777820 |
Varsome | rs587777820 |
LitVar | rs587777820 |
Map | rs587777820 |
PheGenI | rs587777820 |
Biobank | rs587777820 |
1000 genomes | rs587777820 |
hgdp | rs587777820 |
ensembl | rs587777820 |
geneview | rs587777820 |
scholar | rs587777820 |
rs587777820 | |
pharmgkb | rs587777820 |
gwascentral | rs587777820 |
openSNP | rs587777820 |
23andMe | rs587777820 |
SNPshot | rs587777820 |
SNPdbe | rs587777820 |
MSV3d | rs587777820 |
GWAS Ctlg | rs587777820 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777820(-;-) |
Alt | rs587777820(-;-) |
Reference | Rs587777820(TGA;TGA) |
Significance | Pathogenic |
Disease | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
Variation | info |
Gene | POMT1 |
CLNDBN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.134382892_134382894delATG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003410.4, |