rs878854376
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs878854376(-;-) |
Make rs878854376(-;TG) |
Make rs878854376(TG;TG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 46755526 |
Gene | FKRP |
is a | snp |
is | mentioned by |
dbSNP | rs878854376 |
dbSNP (classic) | rs878854376 |
ClinGen | rs878854376 |
ebi | rs878854376 |
HLI | rs878854376 |
Exac | rs878854376 |
Gnomad | rs878854376 |
Varsome | rs878854376 |
LitVar | rs878854376 |
Map | rs878854376 |
PheGenI | rs878854376 |
Biobank | rs878854376 |
1000 genomes | rs878854376 |
hgdp | rs878854376 |
ensembl | rs878854376 |
geneview | rs878854376 |
scholar | rs878854376 |
rs878854376 | |
pharmgkb | rs878854376 |
gwascentral | rs878854376 |
openSNP | rs878854376 |
23andMe | rs878854376 |
SNPshot | rs878854376 |
SNPdbe | rs878854376 |
MSV3d | rs878854376 |
GWAS Ctlg | rs878854376 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854376(-;-) |
Alt | rs878854376(-;-) |
Reference | Rs878854376(GT;GT) |
Significance | Probable-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.47258783_47258784delTG |
CLNSRC | |
CLNACC | RCV000226653.1, |