rs724160030
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs724160030(-;-) |
Make rs724160030(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 116579791 |
Gene | IGSF3 |
is a | snp |
is | mentioned by |
dbSNP | rs724160030 |
dbSNP (classic) | rs724160030 |
ClinGen | rs724160030 |
ebi | rs724160030 |
HLI | rs724160030 |
Exac | rs724160030 |
Gnomad | rs724160030 |
Varsome | rs724160030 |
LitVar | rs724160030 |
Map | rs724160030 |
PheGenI | rs724160030 |
Biobank | rs724160030 |
1000 genomes | rs724160030 |
hgdp | rs724160030 |
ensembl | rs724160030 |
geneview | rs724160030 |
scholar | rs724160030 |
rs724160030 | |
pharmgkb | rs724160030 |
gwascentral | rs724160030 |
openSNP | rs724160030 |
23andMe | rs724160030 |
SNPshot | rs724160030 |
SNPdbe | rs724160030 |
MSV3d | rs724160030 |
GWAS Ctlg | rs724160030 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724160030(-;-) |
Alt | rs724160030(-;-) |
Reference | Rs724160030(C;C) |
Significance | Pathogenic |
Disease | Lacrimal duct defect |
Variation | info |
Gene | IGSF3 |
CLNDBN | Lacrimal duct defect |
Reversed | 1 |
HGVS | NC_000001.10:g.117122413delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149880.4, |