rs797045090
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
Make rs797045090(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 152312743 |
Gene | FLG, FLG-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045090 |
dbSNP (classic) | rs797045090 |
ClinGen | rs797045090 |
ebi | rs797045090 |
HLI | rs797045090 |
Exac | rs797045090 |
Gnomad | rs797045090 |
Varsome | rs797045090 |
LitVar | rs797045090 |
Map | rs797045090 |
PheGenI | rs797045090 |
Biobank | rs797045090 |
1000 genomes | rs797045090 |
hgdp | rs797045090 |
ensembl | rs797045090 |
geneview | rs797045090 |
scholar | rs797045090 |
rs797045090 | |
pharmgkb | rs797045090 |
gwascentral | rs797045090 |
openSNP | rs797045090 |
23andMe | rs797045090 |
SNPshot | rs797045090 |
SNPdbe | rs797045090 |
MSV3d | rs797045090 |
GWAS Ctlg | rs797045090 |
Max Magnitude | 4 |
aka c.2143C>T (p.Gln715Ter)
ClinVar | |
---|---|
Risk | rs797045090(T;T) |
Alt | rs797045090(T;T) |
Reference | Rs797045090(C;C) |
Significance | Pathogenic |
Disease | Ichthyosis vulgaris |
Variation | info |
Gene | FLG FLG-AS1 |
CLNDBN | Ichthyosis vulgaris |
Reversed | 1 |
HGVS | NC_000001.10:g.152285219G>A |
CLNSRC | |
CLNACC | RCV000190587.1, |