rs281865483
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865483(-;GCTGCTGCT) |
Make rs281865483(GCTGCTGCT;GCTGCTGCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41353006 |
Gene | TGFB1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865483 |
dbSNP (classic) | rs281865483 |
ClinGen | rs281865483 |
ebi | rs281865483 |
HLI | rs281865483 |
Exac | rs281865483 |
Gnomad | rs281865483 |
Varsome | rs281865483 |
LitVar | rs281865483 |
Map | rs281865483 |
PheGenI | rs281865483 |
Biobank | rs281865483 |
1000 genomes | rs281865483 |
hgdp | rs281865483 |
ensembl | rs281865483 |
geneview | rs281865483 |
scholar | rs281865483 |
rs281865483 | |
pharmgkb | rs281865483 |
gwascentral | rs281865483 |
openSNP | rs281865483 |
23andMe | rs281865483 |
SNPshot | rs281865483 |
SNPdbe | rs281865483 |
MSV3d | rs281865483 |
GWAS Ctlg | rs281865483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865483(GCTGCTGCT;GCTGCTGCT) |
Alt | rs281865483(GCTGCTGCT;GCTGCTGCT) |
Reference | Rs281865483(;) |
Significance | Pathogenic |
Disease | Diaphyseal dysplasia |
Variation | info |
Gene | TGFB1 |
CLNDBN | Diaphyseal dysplasia |
Reversed | 1 |
HGVS | NC_000019.10:g.41353007_41353015dupAGCAGCAGC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032142.1, |