rs431905519
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs431905519(-;-) |
Make rs431905519(-;TG) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 128633813 |
Gene | SPTAN1, WDR34 |
is a | snp |
is | mentioned by |
dbSNP | rs431905519 |
dbSNP (classic) | rs431905519 |
ClinGen | rs431905519 |
ebi | rs431905519 |
HLI | rs431905519 |
Exac | rs431905519 |
Gnomad | rs431905519 |
Varsome | rs431905519 |
LitVar | rs431905519 |
Map | rs431905519 |
PheGenI | rs431905519 |
Biobank | rs431905519 |
1000 genomes | rs431905519 |
hgdp | rs431905519 |
ensembl | rs431905519 |
geneview | rs431905519 |
scholar | rs431905519 |
rs431905519 | |
pharmgkb | rs431905519 |
gwascentral | rs431905519 |
openSNP | rs431905519 |
23andMe | rs431905519 |
SNPshot | rs431905519 |
SNPdbe | rs431905519 |
MSV3d | rs431905519 |
GWAS Ctlg | rs431905519 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905519(-;-) |
Alt | rs431905519(-;-) |
Reference | Rs431905519(TG;TG) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia 11 with or without polydactyly |
Variation | info |
Gene | SPTAN1 WDR34 |
CLNDBN | Short-rib thoracic dysplasia 11 with or without polydactyly |
Reversed | 0 |
HGVS | NC_000009.11:g.131396092_131396093delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000083289.5, |