rs376586707
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs376586707(A;A) |
Make rs376586707(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 1557934 |
Gene | IFT140 |
is a | snp |
is | mentioned by |
dbSNP | rs376586707 |
dbSNP (classic) | rs376586707 |
ClinGen | rs376586707 |
ebi | rs376586707 |
HLI | rs376586707 |
Exac | rs376586707 |
Gnomad | rs376586707 |
Varsome | rs376586707 |
LitVar | rs376586707 |
Map | rs376586707 |
PheGenI | rs376586707 |
Biobank | rs376586707 |
1000 genomes | rs376586707 |
hgdp | rs376586707 |
ensembl | rs376586707 |
geneview | rs376586707 |
scholar | rs376586707 |
rs376586707 | |
pharmgkb | rs376586707 |
gwascentral | rs376586707 |
openSNP | rs376586707 |
23andMe | rs376586707 |
SNPshot | rs376586707 |
SNPdbe | rs376586707 |
MSV3d | rs376586707 |
GWAS Ctlg | rs376586707 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376586707(A;A) |
Alt | rs376586707(A;A) |
Reference | Rs376586707(C;C) |
Significance | Pathogenic |
Disease | Renal dysplasia |
Variation | info |
Gene | IFT140 |
CLNDBN | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia |
Reversed | 0 |
HGVS | NC_000016.9:g.1607935C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024360.4, |