rs201397168
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201397168(A;A) |
Make rs201397168(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 32068536 |
Gene | TNXB |
is a | snp |
is | mentioned by |
dbSNP | rs201397168 |
dbSNP (classic) | rs201397168 |
ClinGen | rs201397168 |
ebi | rs201397168 |
HLI | rs201397168 |
Exac | rs201397168 |
Gnomad | rs201397168 |
Varsome | rs201397168 |
LitVar | rs201397168 |
Map | rs201397168 |
PheGenI | rs201397168 |
Biobank | rs201397168 |
1000 genomes | rs201397168 |
hgdp | rs201397168 |
ensembl | rs201397168 |
geneview | rs201397168 |
scholar | rs201397168 |
rs201397168 | |
pharmgkb | rs201397168 |
gwascentral | rs201397168 |
openSNP | rs201397168 |
23andMe | rs201397168 |
SNPshot | rs201397168 |
SNPdbe | rs201397168 |
MSV3d | rs201397168 |
GWAS Ctlg | rs201397168 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201397168(A;A) |
Alt | rs201397168(A;A) |
Reference | Rs201397168(T;T) |
Significance | Probable-Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | TNXB |
CLNDBN | Ehlers-Danlos syndrome, type 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.32036313T>A |
CLNSRC | |
CLNACC | RCV000199167.1, |