rs121912575
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912575(A;A) |
Make rs121912575(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32084536 |
Gene | TNXB |
is a | snp |
is | mentioned by |
dbSNP | rs121912575 |
dbSNP (classic) | rs121912575 |
ClinGen | rs121912575 |
ebi | rs121912575 |
HLI | rs121912575 |
Exac | rs121912575 |
Gnomad | rs121912575 |
Varsome | rs121912575 |
LitVar | rs121912575 |
Map | rs121912575 |
PheGenI | rs121912575 |
Biobank | rs121912575 |
1000 genomes | rs121912575 |
hgdp | rs121912575 |
ensembl | rs121912575 |
geneview | rs121912575 |
scholar | rs121912575 |
rs121912575 | |
pharmgkb | rs121912575 |
gwascentral | rs121912575 |
openSNP | rs121912575 |
23andMe | rs121912575 |
SNPshot | rs121912575 |
SNPdbe | rs121912575 |
MSV3d | rs121912575 |
GWAS Ctlg | rs121912575 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912575(A;A) |
Alt | rs121912575(A;A) |
Reference | Rs121912575(G;G) |
Significance | Pathogenic |
Disease | Ehlers-Danlos-like syndrome due to tenascin-X deficiency not specified |
Variation | info |
Gene | TNXB |
CLNDBN | Ehlers-Danlos-like syndrome due to tenascin-X deficiency not specified |
Reversed | 1 |
HGVS | NC_000006.11:g.32052313C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009083.3, RCV000480037.1, |