rs746763506
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs746763506(C;T) |
Make rs746763506(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 105604452 |
Gene | FKTN |
is a | snp |
is | mentioned by |
dbSNP | rs746763506 |
dbSNP (classic) | rs746763506 |
ClinGen | rs746763506 |
ebi | rs746763506 |
HLI | rs746763506 |
Exac | rs746763506 |
Gnomad | rs746763506 |
Varsome | rs746763506 |
LitVar | rs746763506 |
Map | rs746763506 |
PheGenI | rs746763506 |
Biobank | rs746763506 |
1000 genomes | rs746763506 |
hgdp | rs746763506 |
ensembl | rs746763506 |
geneview | rs746763506 |
scholar | rs746763506 |
rs746763506 | |
pharmgkb | rs746763506 |
gwascentral | rs746763506 |
openSNP | rs746763506 |
23andMe | rs746763506 |
SNPshot | rs746763506 |
SNPdbe | rs746763506 |
MSV3d | rs746763506 |
GWAS Ctlg | rs746763506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746763506(T;T) |
Alt | rs746763506(T;T) |
Reference | Rs746763506(C;C) |
Significance | Pathogenic |
Disease | Walker-Warburg congenital muscular dystrophy not provided Congenital muscular dystrophy-dystroglycanopathy without mental retardation Fukuyama congenital muscular dystrophy Limb-girdle muscular dystrophy-dystroglycanopathy |
Variation | info |
Gene | FKTN |
CLNDBN | Walker-Warburg congenital muscular dystrophy not provided Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 Fukuyama congenital muscular dystrophy Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 |
Reversed | 0 |
HGVS | NC_000009.11:g.108366733C>T |
CLNSRC | |
CLNACC | RCV000234557.1, RCV000255310.1, RCV000490403.1, |