rs755416052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | carrier of a cystic fibrosis allele |
Make rs755416052(A;T) |
Make rs755416052(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 117614611 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs755416052 |
dbSNP (classic) | rs755416052 |
ClinGen | rs755416052 |
ebi | rs755416052 |
HLI | rs755416052 |
Exac | rs755416052 |
Gnomad | rs755416052 |
Varsome | rs755416052 |
LitVar | rs755416052 |
Map | rs755416052 |
PheGenI | rs755416052 |
Biobank | rs755416052 |
1000 genomes | rs755416052 |
hgdp | rs755416052 |
ensembl | rs755416052 |
geneview | rs755416052 |
scholar | rs755416052 |
rs755416052 | |
pharmgkb | rs755416052 |
gwascentral | rs755416052 |
openSNP | rs755416052 |
23andMe | rs755416052 |
SNPshot | rs755416052 |
SNPdbe | rs755416052 |
MSV3d | rs755416052 |
GWAS Ctlg | rs755416052 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs755416052(G;G) rs755416052(T;T) |
Alt | rs755416052(G;G) rs755416052(T;T) |
Reference | Rs755416052(A;A) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117254665A>G; NC_000007.13:g.117254665A>T |
CLNSRC | CFTR2 |
CLNACC | RCV000169111.2, RCV000409745.1, |