PhenoModifier-Gene Detail

Gene "SLC11A1"

Found 1 record

Gene information

Gene symbol:

SLC11A1

See related:

Ensembl: ENSG00000018280, Gene ID: 6556

Additive variants :

Detected

Genetic interaction partners

No data

Modifier statisitcs

Record:

1

Disorder:

1

Vriant:

1

Reference:

1

Effect type:

Pleiotropy(1)

Modifier effect:

Altered phenotype(1)

Detail：

Variant 1:

SLC11A1:rs17234516

Gene:

SLC11A1

Genomic location:

dbSNP ID:

rs17234516

Target disease:

Cystic fibrosis(DOID_1485)

Effect type:

Pleiotropy

Modifier effect:

Altered phenotype

Evidence:

OR=3.333; 95% CI: 1.085-10.24

Effect:

The clinical and laboratory variability of CF were associated with the variants in the genes of SLC family

Reference:

PMID28756021

Title:

Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3).

Species studied:

Human

Abstract:

Cystic fibrosis (CF) manifests with clinical and histopathological variability depending on environmental and genetic factors. Moreover, the genes encoding ion channels[rs3788766(SLC6A14), rs7512462(SLC26A9), rs17235416(SLC11A1) and rs17563161(SLC9A3)] have been insufficiently studied as modifier genes. Then, our objective was associate the variants in the genes of SLC family with 43 CF severity markers.