rs764070148
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs764070148(-;-) |
Make rs764070148(-;TT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 32084567 |
Gene | TNXB |
is a | snp |
is | mentioned by |
dbSNP | rs764070148 |
dbSNP (classic) | rs764070148 |
ClinGen | rs764070148 |
ebi | rs764070148 |
HLI | rs764070148 |
Exac | rs764070148 |
Gnomad | rs764070148 |
Varsome | rs764070148 |
LitVar | rs764070148 |
Map | rs764070148 |
PheGenI | rs764070148 |
Biobank | rs764070148 |
1000 genomes | rs764070148 |
hgdp | rs764070148 |
ensembl | rs764070148 |
geneview | rs764070148 |
scholar | rs764070148 |
rs764070148 | |
pharmgkb | rs764070148 |
gwascentral | rs764070148 |
openSNP | rs764070148 |
23andMe | rs764070148 |
SNPshot | rs764070148 |
SNPdbe | rs764070148 |
MSV3d | rs764070148 |
GWAS Ctlg | rs764070148 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764070148(-;-) |
Alt | rs764070148(-;-) |
Reference | Rs764070148(TT;TT) |
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 | 0 |
HGVS | NC_000006.11:g.32052344_32052345delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009080.4, |