rs1057516174
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGCAGCAGCTGCGGCTGCAGCCGCGGGC;TGCAGCAGCTGCGGCTGCAGCCGCGGGC) | 0 | common in clinvar |
Make rs1057516174(-;-) |
Make rs1057516174(-;TGCAGCAGCTGCGGCTGCAGCCGCGGGC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 138946018 |
Gene | FOXL2, FOXL2NB, LINC01391 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516174 |
dbSNP (classic) | rs1057516174 |
ClinGen | rs1057516174 |
ebi | rs1057516174 |
HLI | rs1057516174 |
Exac | rs1057516174 |
Gnomad | rs1057516174 |
Varsome | rs1057516174 |
LitVar | rs1057516174 |
Map | rs1057516174 |
PheGenI | rs1057516174 |
Biobank | rs1057516174 |
1000 genomes | rs1057516174 |
hgdp | rs1057516174 |
ensembl | rs1057516174 |
geneview | rs1057516174 |
scholar | rs1057516174 |
rs1057516174 | |
pharmgkb | rs1057516174 |
gwascentral | rs1057516174 |
openSNP | rs1057516174 |
23andMe | rs1057516174 |
SNPshot | rs1057516174 |
SNPdbe | rs1057516174 |
MSV3d | rs1057516174 |
GWAS Ctlg | rs1057516174 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516174(-;-) |
Alt | rs1057516174(-;-) |
Reference | Rs1057516174(TGCAGCAGCTGCGGCTGCAGCCGCGGGC;TGCAGCAGCTGCGGCTGCAGCCGCGGGC) |
Significance | Pathogenic |
Disease | Blepharophimosis |
Variation | info |
Gene | FOXL2 FOXL2NB C3orf72 LINC01391 |
CLNDBN | Blepharophimosis, ptosis, and epicanthus inversus |
Reversed | 1 |
HGVS | NC_000003.11:g.138664860_138664887del28 |
CLNSRC | |
CLNACC | RCV000408791.1, |