rs35516286
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs35516286(C;C) |
Make rs35516286(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117531068 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs35516286 |
dbSNP (classic) | rs35516286 |
ClinGen | rs35516286 |
ebi | rs35516286 |
HLI | rs35516286 |
Exac | rs35516286 |
Gnomad | rs35516286 |
Varsome | rs35516286 |
LitVar | rs35516286 |
Map | rs35516286 |
PheGenI | rs35516286 |
Biobank | rs35516286 |
1000 genomes | rs35516286 |
hgdp | rs35516286 |
ensembl | rs35516286 |
geneview | rs35516286 |
scholar | rs35516286 |
rs35516286 | |
pharmgkb | rs35516286 |
gwascentral | rs35516286 |
openSNP | rs35516286 |
23andMe | rs35516286 |
SNPshot | rs35516286 |
SNPdbe | rs35516286 |
MSV3d | rs35516286 |
GWAS Ctlg | rs35516286 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
Known as I148T or Ile148Thr, rs35516286 was initially thought to thought to be a mutation associated with cystic fibrosis.
However, as reported succinctly in the CFTR2 database, it is now believed that rs35516286 is only associated with cystic fibrosis CF when another mutation (usually rs121908767, aka 3199del6) is present on the same copy of the CFTR gene AND there is another CF-causing mutation on the other copy of the CFTR gene (i.e. the other chromosome). In other words, while rs35516286 may be co-inherited with a true-CF-causing variant, rs35516286 itself is not CF-causing.
ClinVar | |
---|---|
Risk | rs35516286(A;A) rs35516286(C;C) |
Alt | rs35516286(A;A) rs35516286(C;C) |
Reference | Rs35516286(T;T) |
Significance | Other |
Disease | Cystic fibrosis not specified |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis not specified |
Reversed | 0 |
HGVS | NC_000007.13:g.117171122T>A; NC_000007.13:g.117171122T>C |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000047137.2, RCV000047138.4, RCV000079009.5, |
[PMID 18716917] A novel computational and structural analysis of nsSNPs in CFTR gene.