rs1057517404
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057517404(-;AA) |
Make rs1057517404(AA;AA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 117642572 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs1057517404 |
dbSNP (classic) | rs1057517404 |
ClinGen | rs1057517404 |
ebi | rs1057517404 |
HLI | rs1057517404 |
Exac | rs1057517404 |
Gnomad | rs1057517404 |
Varsome | rs1057517404 |
LitVar | rs1057517404 |
Map | rs1057517404 |
PheGenI | rs1057517404 |
Biobank | rs1057517404 |
1000 genomes | rs1057517404 |
hgdp | rs1057517404 |
ensembl | rs1057517404 |
geneview | rs1057517404 |
scholar | rs1057517404 |
rs1057517404 | |
pharmgkb | rs1057517404 |
gwascentral | rs1057517404 |
openSNP | rs1057517404 |
23andMe | rs1057517404 |
SNPshot | rs1057517404 |
SNPdbe | rs1057517404 |
MSV3d | rs1057517404 |
GWAS Ctlg | rs1057517404 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517404(AA;AA) |
Alt | rs1057517404(AA;AA) |
Reference | Rs1057517404(-;-) |
Significance | Probable-Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117282625_117282626dupAA |
CLNSRC | |
CLNACC | RCV000412356.1, |