rs864309516
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs864309516(-;-) |
Make rs864309516(-;TT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 190322006 |
Gene | CLDN1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309516 |
dbSNP (classic) | rs864309516 |
ClinGen | rs864309516 |
ebi | rs864309516 |
HLI | rs864309516 |
Exac | rs864309516 |
Gnomad | rs864309516 |
Varsome | rs864309516 |
LitVar | rs864309516 |
Map | rs864309516 |
PheGenI | rs864309516 |
Biobank | rs864309516 |
1000 genomes | rs864309516 |
hgdp | rs864309516 |
ensembl | rs864309516 |
geneview | rs864309516 |
scholar | rs864309516 |
rs864309516 | |
pharmgkb | rs864309516 |
gwascentral | rs864309516 |
openSNP | rs864309516 |
23andMe | rs864309516 |
SNPshot | rs864309516 |
SNPdbe | rs864309516 |
MSV3d | rs864309516 |
GWAS Ctlg | rs864309516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309516(-;-) |
Alt | rs864309516(-;-) |
Reference | Rs864309516(TT;TT) |
Significance | Pathogenic |
Disease | Ichthyosis |
Variation | info |
Gene | CLDN1 |
CLNDBN | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
Reversed | 1 |
HGVS | NC_000003.11:g.190039795_190039796delAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006461.3, |