rs786200907
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786200907(-;GT) |
Make rs786200907(GT;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 32095735 |
Gene | TNXB |
is a | snp |
is | mentioned by |
dbSNP | rs786200907 |
dbSNP (classic) | rs786200907 |
ClinGen | rs786200907 |
ebi | rs786200907 |
HLI | rs786200907 |
Exac | rs786200907 |
Gnomad | rs786200907 |
Varsome | rs786200907 |
LitVar | rs786200907 |
Map | rs786200907 |
PheGenI | rs786200907 |
Biobank | rs786200907 |
1000 genomes | rs786200907 |
hgdp | rs786200907 |
ensembl | rs786200907 |
geneview | rs786200907 |
scholar | rs786200907 |
rs786200907 | |
pharmgkb | rs786200907 |
gwascentral | rs786200907 |
openSNP | rs786200907 |
23andMe | rs786200907 |
SNPshot | rs786200907 |
SNPdbe | rs786200907 |
MSV3d | rs786200907 |
GWAS Ctlg | rs786200907 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200907(GT;GT) |
Alt | rs786200907(GT;GT) |
Reference | Rs786200907(-;-) |
Significance | Pathogenic |
Disease | Ehlers-Danlos-like syndrome due to tenascin-X deficiency |
Variation | info |
Gene | TNXB |
CLNDBN | Ehlers-Danlos-like syndrome due to tenascin-X deficiency |
Reversed | 1 |
HGVS | NC_000006.11:g.32063513_32063514dupAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009082.3, |