rs746521543
From SNPedia
Merged into | rs397508189 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs746521543(-;AGAT) |
Make rs746521543(AGAT;AGAT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 117548756 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs746521543 |
dbSNP (classic) | rs746521543 |
ClinGen | rs746521543 |
ebi | rs746521543 |
HLI | rs746521543 |
Exac | rs746521543 |
Gnomad | rs746521543 |
Varsome | rs746521543 |
LitVar | rs746521543 |
Map | rs746521543 |
PheGenI | rs746521543 |
Biobank | rs746521543 |
1000 genomes | rs746521543 |
hgdp | rs746521543 |
ensembl | rs746521543 |
geneview | rs746521543 |
scholar | rs746521543 |
rs746521543 | |
pharmgkb | rs746521543 |
gwascentral | rs746521543 |
openSNP | rs746521543 |
23andMe | rs746521543 |
SNPshot | rs746521543 |
SNPdbe | rs746521543 |
MSV3d | rs746521543 |
GWAS Ctlg | rs746521543 |
Status | Merged into rs397508189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746521543(AGAT;AGAT) |
Alt | rs746521543(AGAT;AGAT) |
Reference | Rs746521543(;) |
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, |