rs761212672
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
Make rs761212672(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 152304999 |
Gene | FLG |
is a | snp |
is | mentioned by |
dbSNP | rs761212672 |
dbSNP (classic) | rs761212672 |
ClinGen | rs761212672 |
ebi | rs761212672 |
HLI | rs761212672 |
Exac | rs761212672 |
Gnomad | rs761212672 |
Varsome | rs761212672 |
LitVar | rs761212672 |
Map | rs761212672 |
PheGenI | rs761212672 |
Biobank | rs761212672 |
1000 genomes | rs761212672 |
hgdp | rs761212672 |
ensembl | rs761212672 |
geneview | rs761212672 |
scholar | rs761212672 |
rs761212672 | |
pharmgkb | rs761212672 |
gwascentral | rs761212672 |
openSNP | rs761212672 |
23andMe | rs761212672 |
SNPshot | rs761212672 |
SNPdbe | rs761212672 |
MSV3d | rs761212672 |
GWAS Ctlg | rs761212672 |
Max Magnitude | 4 |
aka c.9887C>A (p.Ser3296Ter)
ClinVar | |
---|---|
Risk | rs761212672(T;T) |
Alt | rs761212672(T;T) |
Reference | Rs761212672(G;G) |
Significance | Pathogenic |
Disease | Ichthyosis vulgaris |
Variation | info |
Gene | FLG |
CLNDBN | Ichthyosis vulgaris |
Reversed | 0 |
HGVS | NC_000001.10:g.152277475G>T |
CLNSRC | |
CLNACC | RCV000490523.1, |