rs772950604
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs772950604(-;T) |
Make rs772950604(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 46756719 |
Gene | FKRP |
is a | snp |
is | mentioned by |
dbSNP | rs772950604 |
dbSNP (classic) | rs772950604 |
ClinGen | rs772950604 |
ebi | rs772950604 |
HLI | rs772950604 |
Exac | rs772950604 |
Gnomad | rs772950604 |
Varsome | rs772950604 |
LitVar | rs772950604 |
Map | rs772950604 |
PheGenI | rs772950604 |
Biobank | rs772950604 |
1000 genomes | rs772950604 |
hgdp | rs772950604 |
ensembl | rs772950604 |
geneview | rs772950604 |
scholar | rs772950604 |
rs772950604 | |
pharmgkb | rs772950604 |
gwascentral | rs772950604 |
openSNP | rs772950604 |
23andMe | rs772950604 |
SNPshot | rs772950604 |
SNPdbe | rs772950604 |
MSV3d | rs772950604 |
GWAS Ctlg | rs772950604 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772950604(T;T) |
Alt | rs772950604(T;T) |
Reference | Rs772950604(-;-) |
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.47259976_47259977insT |
CLNSRC | |
CLNACC | RCV000382228.1, |