rs535289422
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
(G;G) | 0 | common in clinvar |
Make rs535289422(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 152307697 |
Gene | FLG |
is a | snp |
is | mentioned by |
dbSNP | rs535289422 |
dbSNP (classic) | rs535289422 |
ClinGen | rs535289422 |
ebi | rs535289422 |
HLI | rs535289422 |
Exac | rs535289422 |
Gnomad | rs535289422 |
Varsome | rs535289422 |
LitVar | rs535289422 |
Map | rs535289422 |
PheGenI | rs535289422 |
Biobank | rs535289422 |
1000 genomes | rs535289422 |
hgdp | rs535289422 |
ensembl | rs535289422 |
geneview | rs535289422 |
scholar | rs535289422 |
rs535289422 | |
pharmgkb | rs535289422 |
gwascentral | rs535289422 |
openSNP | rs535289422 |
23andMe | rs535289422 |
SNPshot | rs535289422 |
SNPdbe | rs535289422 |
MSV3d | rs535289422 |
GWAS Ctlg | rs535289422 |
Max Magnitude | 4 |
aka c.7189C>T (p.Gln2397Ter)
ClinVar | |
---|---|
Risk | rs535289422(A;A) rs535289422(C;C) |
Alt | rs535289422(A;A) rs535289422(C;C) |
Reference | Rs535289422(G;G) |
Significance | Pathogenic |
Disease | Ichthyosis vulgaris |
Variation | info |
Gene | FLG |
CLNDBN | Ichthyosis vulgaris |
Reversed | 0 |
HGVS | NC_000001.10:g.152280173G>A |
CLNSRC | |
CLNACC | RCV000490295.1, |