rs1057519478
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCCGCCAGCCCCCGCCCGC;GCCGCCAGCCCCCGCCCGC) | 0 | common in clinvar |
Make rs1057519478(-;-) |
Make rs1057519478(-;AGCCCCCGCCCGCGCCGCC) |
Make rs1057519478(AGCCCCCGCCCGCGCCGCC;AGCCCCCGCCCGCGCCGCC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 1611044 |
Gene | FOXC1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519478 |
dbSNP (classic) | rs1057519478 |
ClinGen | rs1057519478 |
ebi | rs1057519478 |
HLI | rs1057519478 |
Exac | rs1057519478 |
Gnomad | rs1057519478 |
Varsome | rs1057519478 |
LitVar | rs1057519478 |
Map | rs1057519478 |
PheGenI | rs1057519478 |
Biobank | rs1057519478 |
1000 genomes | rs1057519478 |
hgdp | rs1057519478 |
ensembl | rs1057519478 |
geneview | rs1057519478 |
scholar | rs1057519478 |
rs1057519478 | |
pharmgkb | rs1057519478 |
gwascentral | rs1057519478 |
openSNP | rs1057519478 |
23andMe | rs1057519478 |
SNPshot | rs1057519478 |
SNPdbe | rs1057519478 |
MSV3d | rs1057519478 |
GWAS Ctlg | rs1057519478 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519478(-;-) |
Alt | rs1057519478(-;-) |
Reference | Rs1057519478(GCCGCCAGCCCCCGCCCGC;GCCGCCAGCCCCCGCCCGC) |
Significance | Pathogenic |
Disease | Axenfeld-Rieger syndrome type 3 |
Variation | info |
Gene | FOXC1 |
CLNDBN | Axenfeld-Rieger syndrome type 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.1611279_1611297del19 |
CLNSRC | |
CLNACC | RCV000416505.1, |