rs75763344
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs75763344(A;A) |
Make rs75763344(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117540171 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs75763344 |
dbSNP (classic) | rs75763344 |
ClinGen | rs75763344 |
ebi | rs75763344 |
HLI | rs75763344 |
Exac | rs75763344 |
Gnomad | rs75763344 |
Varsome | rs75763344 |
LitVar | rs75763344 |
Map | rs75763344 |
PheGenI | rs75763344 |
Biobank | rs75763344 |
1000 genomes | rs75763344 |
hgdp | rs75763344 |
ensembl | rs75763344 |
geneview | rs75763344 |
scholar | rs75763344 |
rs75763344 | |
pharmgkb | rs75763344 |
gwascentral | rs75763344 |
openSNP | rs75763344 |
23andMe | rs75763344 |
SNPshot | rs75763344 |
SNPdbe | rs75763344 |
MSV3d | rs75763344 |
GWAS Ctlg | rs75763344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75763344(A;A) rs75763344(T;T) |
Alt | rs75763344(A;A) rs75763344(T;T) |
Reference | Rs75763344(G;G) |
Significance | Untested |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117180225G>A; NC_000007.13:g.117180225G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000047292.2, RCV000047293.2, |