rs201129153
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201129153(C;T) |
Make rs201129153(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 218441257 |
Gene | TGFB2, TGFB2-OT1 |
is a | snp |
is | mentioned by |
dbSNP | rs201129153 |
dbSNP (classic) | rs201129153 |
ClinGen | rs201129153 |
ebi | rs201129153 |
HLI | rs201129153 |
Exac | rs201129153 |
Gnomad | rs201129153 |
Varsome | rs201129153 |
LitVar | rs201129153 |
Map | rs201129153 |
PheGenI | rs201129153 |
Biobank | rs201129153 |
1000 genomes | rs201129153 |
hgdp | rs201129153 |
ensembl | rs201129153 |
geneview | rs201129153 |
scholar | rs201129153 |
rs201129153 | |
pharmgkb | rs201129153 |
gwascentral | rs201129153 |
openSNP | rs201129153 |
23andMe | rs201129153 |
SNPshot | rs201129153 |
SNPdbe | rs201129153 |
MSV3d | rs201129153 |
GWAS Ctlg | rs201129153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201129153(G;G) rs201129153(T;T) |
Alt | rs201129153(G;G) rs201129153(T;T) |
Reference | Rs201129153(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Holt-Oram syndrome |
Variation | info |
Gene | TGFB2-OT1 TGFB2 |
CLNDBN | not provided Holt-Oram syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.218614599C>G; NC_000001.10:g.218614599C>T |
CLNSRC | |
CLNACC | RCV000441929.1, RCV000459106.1, |