rs1060502826
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
Make rs1060502826(-;-) |
Make rs1060502826(-;GG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 75963358 |
Gene | TGFB3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502826 |
dbSNP (classic) | rs1060502826 |
ClinGen | rs1060502826 |
ebi | rs1060502826 |
HLI | rs1060502826 |
Exac | rs1060502826 |
Gnomad | rs1060502826 |
Varsome | rs1060502826 |
LitVar | rs1060502826 |
Map | rs1060502826 |
PheGenI | rs1060502826 |
Biobank | rs1060502826 |
1000 genomes | rs1060502826 |
hgdp | rs1060502826 |
ensembl | rs1060502826 |
geneview | rs1060502826 |
scholar | rs1060502826 |
rs1060502826 | |
pharmgkb | rs1060502826 |
gwascentral | rs1060502826 |
openSNP | rs1060502826 |
23andMe | rs1060502826 |
SNPshot | rs1060502826 |
SNPdbe | rs1060502826 |
MSV3d | rs1060502826 |
GWAS Ctlg | rs1060502826 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502826(-;-) |
Alt | rs1060502826(-;-) |
Reference | Rs1060502826(GG;GG) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 4 |
Variation | info |
Gene | TGFB3 |
CLNDBN | Loeys-Dietz syndrome 4 |
Reversed | 1 |
HGVS | NC_000014.8:g.76429701_76429702delCC |
CLNSRC | |
CLNACC | RCV000462294.1, |