rs1057516172
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CGGCTGCAGCAGCTGCGGCTGC;CGGCTGCAGCAGCTGCGGCTGC) | 0 | common in clinvar |
Make rs1057516172(-;-) |
Make rs1057516172(-;CGGCTGCAGCAGCTGCGGCTGC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 138946028 |
Gene | FOXL2, FOXL2NB |
is a | snp |
is | mentioned by |
dbSNP | rs1057516172 |
dbSNP (classic) | rs1057516172 |
ClinGen | rs1057516172 |
ebi | rs1057516172 |
HLI | rs1057516172 |
Exac | rs1057516172 |
Gnomad | rs1057516172 |
Varsome | rs1057516172 |
LitVar | rs1057516172 |
Map | rs1057516172 |
PheGenI | rs1057516172 |
Biobank | rs1057516172 |
1000 genomes | rs1057516172 |
hgdp | rs1057516172 |
ensembl | rs1057516172 |
geneview | rs1057516172 |
scholar | rs1057516172 |
rs1057516172 | |
pharmgkb | rs1057516172 |
gwascentral | rs1057516172 |
openSNP | rs1057516172 |
23andMe | rs1057516172 |
SNPshot | rs1057516172 |
SNPdbe | rs1057516172 |
MSV3d | rs1057516172 |
GWAS Ctlg | rs1057516172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516172(-;-) |
Alt | rs1057516172(-;-) |
Reference | Rs1057516172(CGGCTGCAGCAGCTGCGGCTGC;CGGCTGCAGCAGCTGCGGCTGC) |
Significance | Pathogenic |
Disease | Blepharophimosis |
Variation | info |
Gene | FOXL2 C3orf72 FOXL2NB |
CLNDBN | Blepharophimosis, ptosis, and epicanthus inversus |
Reversed | 1 |
HGVS | NC_000003.11:g.138664870_138664891del22 |
CLNSRC | |
CLNACC | RCV000408845.1, |