rs1060499587
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;ACAGG) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
(ACAGG;ACAGG) | 0 | common in clinvar |
Make rs1060499587(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 152313983 |
Gene | FLG, FLG-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499587 |
dbSNP (classic) | rs1060499587 |
ClinGen | rs1060499587 |
ebi | rs1060499587 |
HLI | rs1060499587 |
Exac | rs1060499587 |
Gnomad | rs1060499587 |
Varsome | rs1060499587 |
LitVar | rs1060499587 |
Map | rs1060499587 |
PheGenI | rs1060499587 |
Biobank | rs1060499587 |
1000 genomes | rs1060499587 |
hgdp | rs1060499587 |
ensembl | rs1060499587 |
geneview | rs1060499587 |
scholar | rs1060499587 |
rs1060499587 | |
pharmgkb | rs1060499587 |
gwascentral | rs1060499587 |
openSNP | rs1060499587 |
23andMe | rs1060499587 |
SNPshot | rs1060499587 |
SNPdbe | rs1060499587 |
MSV3d | rs1060499587 |
GWAS Ctlg | rs1060499587 |
Max Magnitude | 4 |
aka c.899_903del (p.Asp300fs)
ClinVar | |
---|---|
Risk | rs1060499587(-;-) |
Alt | rs1060499587(-;-) |
Reference | Rs1060499587(ACAGG;ACAGG) |
Significance | Probable-Pathogenic |
Disease | Ichthyosis vulgaris |
Variation | info |
Gene | FLG FLG-AS1 |
CLNDBN | Ichthyosis vulgaris |
Reversed | 1 |
HGVS | NC_000001.10:g.152286459_152286463delCCTGT |
CLNSRC | |
CLNACC | RCV000477947.1, |