rs875989817
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs875989817(-;-) |
Make rs875989817(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 75965638 |
Gene | TGFB3 |
is a | snp |
is | mentioned by |
dbSNP | rs875989817 |
dbSNP (classic) | rs875989817 |
ClinGen | rs875989817 |
ebi | rs875989817 |
HLI | rs875989817 |
Exac | rs875989817 |
Gnomad | rs875989817 |
Varsome | rs875989817 |
LitVar | rs875989817 |
Map | rs875989817 |
PheGenI | rs875989817 |
Biobank | rs875989817 |
1000 genomes | rs875989817 |
hgdp | rs875989817 |
ensembl | rs875989817 |
geneview | rs875989817 |
scholar | rs875989817 |
rs875989817 | |
pharmgkb | rs875989817 |
gwascentral | rs875989817 |
openSNP | rs875989817 |
23andMe | rs875989817 |
SNPshot | rs875989817 |
SNPdbe | rs875989817 |
MSV3d | rs875989817 |
GWAS Ctlg | rs875989817 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989817(-;-) |
Alt | rs875989817(-;-) |
Reference | Rs875989817(A;A) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 5 |
Variation | info |
Gene | TGFB3 |
CLNDBN | Loeys-Dietz syndrome 5 |
Reversed | 1 |
HGVS | NC_000014.8:g.76431981delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185631.3, |