rs797044529
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044529(-;CCGGCCGCACCCCCGCC) |
Make rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 138945865 |
Gene | FOXL2, FOXL2NB, LINC01391 |
is a | snp |
is | mentioned by |
dbSNP | rs797044529 |
dbSNP (classic) | rs797044529 |
ClinGen | rs797044529 |
ebi | rs797044529 |
HLI | rs797044529 |
Exac | rs797044529 |
Gnomad | rs797044529 |
Varsome | rs797044529 |
LitVar | rs797044529 |
Map | rs797044529 |
PheGenI | rs797044529 |
Biobank | rs797044529 |
1000 genomes | rs797044529 |
hgdp | rs797044529 |
ensembl | rs797044529 |
geneview | rs797044529 |
scholar | rs797044529 |
rs797044529 | |
pharmgkb | rs797044529 |
gwascentral | rs797044529 |
openSNP | rs797044529 |
23andMe | rs797044529 |
SNPshot | rs797044529 |
SNPdbe | rs797044529 |
MSV3d | rs797044529 |
GWAS Ctlg | rs797044529 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC) |
Alt | rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC) |
Reference | Rs797044529(-;-) |
Significance | Pathogenic |
Disease | Blepharophimosis |
Variation | info |
Gene | FOXL2 C3orf72 FOXL2NB LINC01391 |
CLNDBN | Blepharophimosis, ptosis, and epicanthus inversus |
Reversed | 1 |
HGVS | NC_000003.11:g.138664708_138664724dup17 |
CLNSRC | |
CLNACC | RCV000192037.1, |