rs761821795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs761821795(C;T) |
Make rs761821795(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 46755763 |
Gene | FKRP |
is a | snp |
is | mentioned by |
dbSNP | rs761821795 |
dbSNP (classic) | rs761821795 |
ClinGen | rs761821795 |
ebi | rs761821795 |
HLI | rs761821795 |
Exac | rs761821795 |
Gnomad | rs761821795 |
Varsome | rs761821795 |
LitVar | rs761821795 |
Map | rs761821795 |
PheGenI | rs761821795 |
Biobank | rs761821795 |
1000 genomes | rs761821795 |
hgdp | rs761821795 |
ensembl | rs761821795 |
geneview | rs761821795 |
scholar | rs761821795 |
rs761821795 | |
pharmgkb | rs761821795 |
gwascentral | rs761821795 |
openSNP | rs761821795 |
23andMe | rs761821795 |
SNPshot | rs761821795 |
SNPdbe | rs761821795 |
MSV3d | rs761821795 |
GWAS Ctlg | rs761821795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761821795(T;T) |
Alt | rs761821795(T;T) |
Reference | Rs761821795(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy-dystroglycanopathy |
Variation | info |
Gene | FKRP |
CLNDBN | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 |
Reversed | 0 |
HGVS | NC_000019.9:g.47259020C>T |
CLNSRC | |
CLNACC | RCV000272017.1, |