rs28934568
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 3 | |
(C;T) | 7 | Loeys-Dietz Syndrome |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 30672106 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs28934568 |
dbSNP (classic) | rs28934568 |
ClinGen | rs28934568 |
ebi | rs28934568 |
HLI | rs28934568 |
Exac | rs28934568 |
Gnomad | rs28934568 |
Varsome | rs28934568 |
LitVar | rs28934568 |
Map | rs28934568 |
PheGenI | rs28934568 |
Biobank | rs28934568 |
1000 genomes | rs28934568 |
hgdp | rs28934568 |
ensembl | rs28934568 |
geneview | rs28934568 |
scholar | rs28934568 |
rs28934568 | |
pharmgkb | rs28934568 |
gwascentral | rs28934568 |
openSNP | rs28934568 |
23andMe | rs28934568 |
SNPshot | rs28934568 |
SNPdbe | rs28934568 |
MSV3d | rs28934568 |
GWAS Ctlg | rs28934568 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs28934568(C;C) |
Alt | Rs28934568(C;C) |
Reference | Rs28934568(T;T) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 2 |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Loeys-Dietz syndrome 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.30713598T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013329.25, |