rs863225453
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863225453(-;G) |
Make rs863225453(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 138945763 |
Gene | FOXL2, FOXL2NB, LINC01391 |
is a | snp |
is | mentioned by |
dbSNP | rs863225453 |
dbSNP (classic) | rs863225453 |
ClinGen | rs863225453 |
ebi | rs863225453 |
HLI | rs863225453 |
Exac | rs863225453 |
Gnomad | rs863225453 |
Varsome | rs863225453 |
LitVar | rs863225453 |
Map | rs863225453 |
PheGenI | rs863225453 |
Biobank | rs863225453 |
1000 genomes | rs863225453 |
hgdp | rs863225453 |
ensembl | rs863225453 |
geneview | rs863225453 |
scholar | rs863225453 |
rs863225453 | |
pharmgkb | rs863225453 |
gwascentral | rs863225453 |
openSNP | rs863225453 |
23andMe | rs863225453 |
SNPshot | rs863225453 |
SNPdbe | rs863225453 |
MSV3d | rs863225453 |
GWAS Ctlg | rs863225453 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225453(G;G) |
Alt | rs863225453(G;G) |
Reference | Rs863225453(-;-) |
Significance | Pathogenic |
Disease | Blepharophimosis syndrome type 1 |
Variation | info |
Gene | FOXL2 C3orf72 FOXL2NB LINC01391 |
CLNDBN | Blepharophimosis syndrome type 1 |
Reversed | 1 |
HGVS | NC_000003.11:g.138664606dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005143.3, |