rs104894516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894516(C;G) |
Make rs104894516(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 86567632 |
Gene | FOXC2, FOXC2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894516 |
dbSNP (classic) | rs104894516 |
ClinGen | rs104894516 |
ebi | rs104894516 |
HLI | rs104894516 |
Exac | rs104894516 |
Gnomad | rs104894516 |
Varsome | rs104894516 |
LitVar | rs104894516 |
Map | rs104894516 |
PheGenI | rs104894516 |
Biobank | rs104894516 |
1000 genomes | rs104894516 |
hgdp | rs104894516 |
ensembl | rs104894516 |
geneview | rs104894516 |
scholar | rs104894516 |
rs104894516 | |
pharmgkb | rs104894516 |
gwascentral | rs104894516 |
openSNP | rs104894516 |
23andMe | rs104894516 |
SNPshot | rs104894516 |
SNPdbe | rs104894516 |
MSV3d | rs104894516 |
GWAS Ctlg | rs104894516 |
Max Magnitude | 0 |
Reported to be associated with Lymphedema-distichiasis syndrome.
See OMIM 602402.0001
ClinVar | |
---|---|
Risk | rs104894516(G;G) |
Alt | rs104894516(G;G) |
Reference | Rs104894516(C;C) |
Significance | Pathogenic |
Disease | Distichiasis-lymphedema syndrome |
Variation | info |
Gene | FOXC2 FOXC2-AS1 |
CLNDBN | Distichiasis-lymphedema syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.86601238C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007671.3, |