rs1057519380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057519380(-;TAGCTATCGTTCTTTT) |
Make rs1057519380(TAGCTATCGTTCTTTT;TAGCTATCGTTCTTTT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 41239153 |
Gene | CTNNB1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519380 |
dbSNP (classic) | rs1057519380 |
ClinGen | rs1057519380 |
ebi | rs1057519380 |
HLI | rs1057519380 |
Exac | rs1057519380 |
Gnomad | rs1057519380 |
Varsome | rs1057519380 |
LitVar | rs1057519380 |
Map | rs1057519380 |
PheGenI | rs1057519380 |
Biobank | rs1057519380 |
1000 genomes | rs1057519380 |
hgdp | rs1057519380 |
ensembl | rs1057519380 |
geneview | rs1057519380 |
scholar | rs1057519380 |
rs1057519380 | |
pharmgkb | rs1057519380 |
gwascentral | rs1057519380 |
openSNP | rs1057519380 |
23andMe | rs1057519380 |
SNPshot | rs1057519380 |
SNPdbe | rs1057519380 |
MSV3d | rs1057519380 |
GWAS Ctlg | rs1057519380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519380(TAGCTATCGTTCTTTT;TAGCTATCGTTCTTTT) |
Alt | rs1057519380(TAGCTATCGTTCTTTT;TAGCTATCGTTCTTTT) |
Reference | Rs1057519380(-;-) |
Significance | Pathogenic |
Disease | Exudative vitreoretinopathy 1 |
Variation | info |
Gene | CTNNB1 |
CLNDBN | Exudative vitreoretinopathy 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.41280629_41280644dup16 |
CLNSRC | |
CLNACC | RCV000416893.1, |