rs772370177
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs772370177(A;A) |
Make rs772370177(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 131509761 |
Gene | POMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs772370177 |
dbSNP (classic) | rs772370177 |
ClinGen | rs772370177 |
ebi | rs772370177 |
HLI | rs772370177 |
Exac | rs772370177 |
Gnomad | rs772370177 |
Varsome | rs772370177 |
LitVar | rs772370177 |
Map | rs772370177 |
PheGenI | rs772370177 |
Biobank | rs772370177 |
1000 genomes | rs772370177 |
hgdp | rs772370177 |
ensembl | rs772370177 |
geneview | rs772370177 |
scholar | rs772370177 |
rs772370177 | |
pharmgkb | rs772370177 |
gwascentral | rs772370177 |
openSNP | rs772370177 |
23andMe | rs772370177 |
SNPshot | rs772370177 |
SNPdbe | rs772370177 |
MSV3d | rs772370177 |
GWAS Ctlg | rs772370177 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772370177(A;A) rs772370177(T;T) |
Alt | rs772370177(A;A) rs772370177(T;T) |
Reference | Rs772370177(G;G) |
Significance | Probable-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.134385148G>A |
CLNSRC | |
CLNACC | RCV000192686.1, |