rs193922516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 3 | cystic fibrosis carrier (most likely) |
(C;C) | 0 | common in clinvar |
Make rs193922516(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117610568 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs193922516 |
dbSNP (classic) | rs193922516 |
ClinGen | rs193922516 |
ebi | rs193922516 |
HLI | rs193922516 |
Exac | rs193922516 |
Gnomad | rs193922516 |
Varsome | rs193922516 |
LitVar | rs193922516 |
Map | rs193922516 |
PheGenI | rs193922516 |
Biobank | rs193922516 |
1000 genomes | rs193922516 |
hgdp | rs193922516 |
ensembl | rs193922516 |
geneview | rs193922516 |
scholar | rs193922516 |
rs193922516 | |
pharmgkb | rs193922516 |
gwascentral | rs193922516 |
openSNP | rs193922516 |
23andMe | rs193922516 |
SNPshot | rs193922516 |
SNPdbe | rs193922516 |
MSV3d | rs193922516 |
GWAS Ctlg | rs193922516 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs193922516(A;A) rs193922516(G;G) rs193922516(T;T) |
Alt | rs193922516(A;A) rs193922516(G;G) rs193922516(T;T) |
Reference | Rs193922516(C;C) |
Significance | Probable-Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117250622C>A; NC_000007.13:g.117250622C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000029514.1, RCV000046763.2, |