rs141784184
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
Make rs141784184(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 152309169 |
Gene | FLG |
is a | snp |
is | mentioned by |
dbSNP | rs141784184 |
dbSNP (classic) | rs141784184 |
ClinGen | rs141784184 |
ebi | rs141784184 |
HLI | rs141784184 |
Exac | rs141784184 |
Gnomad | rs141784184 |
Varsome | rs141784184 |
LitVar | rs141784184 |
Map | rs141784184 |
PheGenI | rs141784184 |
Biobank | rs141784184 |
1000 genomes | rs141784184 |
hgdp | rs141784184 |
ensembl | rs141784184 |
geneview | rs141784184 |
scholar | rs141784184 |
rs141784184 | |
pharmgkb | rs141784184 |
gwascentral | rs141784184 |
openSNP | rs141784184 |
23andMe | rs141784184 |
SNPshot | rs141784184 |
SNPdbe | rs141784184 |
MSV3d | rs141784184 |
GWAS Ctlg | rs141784184 |
Max Magnitude | 4 |
aka c.5717C>A (p.Ser1906Ter)
ClinVar | |
---|---|
Risk | rs141784184(A;A) rs141784184(T;T) |
Alt | rs141784184(A;A) rs141784184(T;T) |
Reference | Rs141784184(G;G) |
Significance | Probable-Pathogenic |
Disease | Ichthyosis vulgaris |
Variation | info |
Gene | FLG |
CLNDBN | Ichthyosis vulgaris |
Reversed | 0 |
HGVS | NC_000001.10:g.152281645G>T |
CLNSRC | |
CLNACC | RCV000490339.1, |