rs786204587
From SNPedia
Merged into | rs397508189 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204587(-;GATA) |
Make rs786204587(GATA;GATA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 117548761 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs786204587 |
dbSNP (classic) | rs786204587 |
ClinGen | rs786204587 |
ebi | rs786204587 |
HLI | rs786204587 |
Exac | rs786204587 |
Gnomad | rs786204587 |
Varsome | rs786204587 |
LitVar | rs786204587 |
Map | rs786204587 |
PheGenI | rs786204587 |
Biobank | rs786204587 |
1000 genomes | rs786204587 |
hgdp | rs786204587 |
ensembl | rs786204587 |
geneview | rs786204587 |
scholar | rs786204587 |
rs786204587 | |
pharmgkb | rs786204587 |
gwascentral | rs786204587 |
openSNP | rs786204587 |
23andMe | rs786204587 |
SNPshot | rs786204587 |
SNPdbe | rs786204587 |
MSV3d | rs786204587 |
GWAS Ctlg | rs786204587 |
Status | Merged into rs397508189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204587(AGAT;AGAT) |
Alt | rs786204587(AGAT;AGAT) |
Reference | Rs786204587(;) |
Significance | Pathogenic |
Disease | Cystic fibrosis not provided |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.117188812_117188815dupGATA |
CLNSRC | CFTR2 |
CLNACC | RCV000169333.1, RCV000224712.1, |