rs142864834
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs142864834(A;T) |
Make rs142864834(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117536650 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs142864834 |
dbSNP (classic) | rs142864834 |
ClinGen | rs142864834 |
ebi | rs142864834 |
HLI | rs142864834 |
Exac | rs142864834 |
Gnomad | rs142864834 |
Varsome | rs142864834 |
LitVar | rs142864834 |
Map | rs142864834 |
PheGenI | rs142864834 |
Biobank | rs142864834 |
1000 genomes | rs142864834 |
hgdp | rs142864834 |
ensembl | rs142864834 |
geneview | rs142864834 |
scholar | rs142864834 |
rs142864834 | |
pharmgkb | rs142864834 |
gwascentral | rs142864834 |
openSNP | rs142864834 |
23andMe | rs142864834 |
SNPshot | rs142864834 |
SNPdbe | rs142864834 |
MSV3d | rs142864834 |
GWAS Ctlg | rs142864834 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142864834(T;T) |
Alt | rs142864834(T;T) |
Reference | Rs142864834(A;A) |
Significance | Probable-Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117176704A>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029546.1, |