rs140005285
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs140005285(C;C) |
Make rs140005285(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 139911233 |
Gene | TBXAS1 |
is a | snp |
is | mentioned by |
dbSNP | rs140005285 |
dbSNP (classic) | rs140005285 |
ClinGen | rs140005285 |
ebi | rs140005285 |
HLI | rs140005285 |
Exac | rs140005285 |
Gnomad | rs140005285 |
Varsome | rs140005285 |
LitVar | rs140005285 |
Map | rs140005285 |
PheGenI | rs140005285 |
Biobank | rs140005285 |
1000 genomes | rs140005285 |
hgdp | rs140005285 |
ensembl | rs140005285 |
geneview | rs140005285 |
scholar | rs140005285 |
rs140005285 | |
pharmgkb | rs140005285 |
gwascentral | rs140005285 |
openSNP | rs140005285 |
23andMe | rs140005285 |
SNPshot | rs140005285 |
SNPdbe | rs140005285 |
MSV3d | rs140005285 |
GWAS Ctlg | rs140005285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140005285(C;C) |
Alt | rs140005285(C;C) |
Reference | Rs140005285(T;T) |
Significance | Pathogenic |
Disease | Ghosal hematodiaphyseal syndrome not specified |
Variation | info |
Gene | TBXAS1 |
CLNDBN | Ghosal hematodiaphyseal syndrome not specified |
Reversed | 0 |
HGVS | NC_000007.13:g.139611032T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012662.22, RCV000178142.1, |