rs202193096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202193096(A;A) |
Make rs202193096(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 30089130 |
Gene | TBX6 |
is a | snp |
is | mentioned by |
dbSNP | rs202193096 |
dbSNP (classic) | rs202193096 |
ClinGen | rs202193096 |
ebi | rs202193096 |
HLI | rs202193096 |
Exac | rs202193096 |
Gnomad | rs202193096 |
Varsome | rs202193096 |
LitVar | rs202193096 |
Map | rs202193096 |
PheGenI | rs202193096 |
Biobank | rs202193096 |
1000 genomes | rs202193096 |
hgdp | rs202193096 |
ensembl | rs202193096 |
geneview | rs202193096 |
scholar | rs202193096 |
rs202193096 | |
pharmgkb | rs202193096 |
gwascentral | rs202193096 |
openSNP | rs202193096 |
23andMe | rs202193096 |
SNPshot | rs202193096 |
SNPdbe | rs202193096 |
MSV3d | rs202193096 |
GWAS Ctlg | rs202193096 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202193096(A;A) |
Alt | rs202193096(A;A) |
Reference | Rs202193096(G;G) |
Significance | Pathogenic |
Disease | Spondylocostal dysostosis 5 |
Variation | info |
Gene | TBX6 |
CLNDBN | Spondylocostal dysostosis 5 |
Reversed | 0 |
HGVS | NC_000016.9:g.30100451G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000167866.3, |