rs672601358
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs672601358(-;TCAGCCCTGCCAGCCCAGC) |
Make rs672601358(TCAGCCCTGCCAGCCCAGC;TCAGCCCTGCCAGCCCAGC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 138945739 |
Gene | FOXL2, FOXL2NB, LINC01391 |
is a | snp |
is | mentioned by |
dbSNP | rs672601358 |
dbSNP (classic) | rs672601358 |
ClinGen | rs672601358 |
ebi | rs672601358 |
HLI | rs672601358 |
Exac | rs672601358 |
Gnomad | rs672601358 |
Varsome | rs672601358 |
LitVar | rs672601358 |
Map | rs672601358 |
PheGenI | rs672601358 |
Biobank | rs672601358 |
1000 genomes | rs672601358 |
hgdp | rs672601358 |
ensembl | rs672601358 |
geneview | rs672601358 |
scholar | rs672601358 |
rs672601358 | |
pharmgkb | rs672601358 |
gwascentral | rs672601358 |
openSNP | rs672601358 |
23andMe | rs672601358 |
SNPshot | rs672601358 |
SNPdbe | rs672601358 |
MSV3d | rs672601358 |
GWAS Ctlg | rs672601358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601358(TCAGCCCTGCCAGCCCAGC;TCAGCCCTGCCAGCCCAGC) |
Alt | rs672601358(TCAGCCCTGCCAGCCCAGC;TCAGCCCTGCCAGCCCAGC) |
Reference | Rs672601358(-;-) |
Significance | Pathogenic |
Disease | Blepharophimosis |
Variation | info |
Gene | FOXL2 C3orf72 FOXL2NB LINC01391 |
CLNDBN | Blepharophimosis, ptosis, and epicanthus inversus |
Reversed | 1 |
HGVS | NC_000003.11:g.138664582_138664600dup19 |
CLNSRC | |
CLNACC | RCV000149461.1, |