rs370819786
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370819786(G;T) |
Make rs370819786(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 105607952 |
Gene | FKTN |
is a | snp |
is | mentioned by |
dbSNP | rs370819786 |
dbSNP (classic) | rs370819786 |
ClinGen | rs370819786 |
ebi | rs370819786 |
HLI | rs370819786 |
Exac | rs370819786 |
Gnomad | rs370819786 |
Varsome | rs370819786 |
LitVar | rs370819786 |
Map | rs370819786 |
PheGenI | rs370819786 |
Biobank | rs370819786 |
1000 genomes | rs370819786 |
hgdp | rs370819786 |
ensembl | rs370819786 |
geneview | rs370819786 |
scholar | rs370819786 |
rs370819786 | |
pharmgkb | rs370819786 |
gwascentral | rs370819786 |
openSNP | rs370819786 |
23andMe | rs370819786 |
SNPshot | rs370819786 |
SNPdbe | rs370819786 |
MSV3d | rs370819786 |
GWAS Ctlg | rs370819786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370819786(A;A) rs370819786(T;T) |
Alt | rs370819786(A;A) rs370819786(T;T) |
Reference | Rs370819786(G;G) |
Significance | Probable-Pathogenic |
Disease | Fukuyama congenital muscular dystrophy |
Variation | info |
Gene | FKTN |
CLNDBN | Fukuyama congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000009.11:g.108370233G>A |
CLNSRC | |
CLNACC | RCV000411471.1, |