rs77902683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | cystic fibrosis carrier |
Make rs77902683(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 117642568 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs77902683 |
dbSNP (classic) | rs77902683 |
ClinGen | rs77902683 |
ebi | rs77902683 |
HLI | rs77902683 |
Exac | rs77902683 |
Gnomad | rs77902683 |
Varsome | rs77902683 |
LitVar | rs77902683 |
Map | rs77902683 |
PheGenI | rs77902683 |
Biobank | rs77902683 |
1000 genomes | rs77902683 |
hgdp | rs77902683 |
ensembl | rs77902683 |
geneview | rs77902683 |
scholar | rs77902683 |
rs77902683 | |
pharmgkb | rs77902683 |
gwascentral | rs77902683 |
openSNP | rs77902683 |
23andMe | rs77902683 |
SNPshot | rs77902683 |
SNPdbe | rs77902683 |
MSV3d | rs77902683 |
GWAS Ctlg | rs77902683 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs77902683(A;A) rs77902683(T;T) |
Alt | rs77902683(A;A) rs77902683(T;T) |
Reference | Rs77902683(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117282622G>A; NC_000007.13:g.117282622G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000046995.2, RCV000007587.3, |