rs431905507
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs431905507(-;-) |
Make rs431905507(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 103209955 |
Gene | DYNC2H1 |
is a | snp |
is | mentioned by |
dbSNP | rs431905507 |
dbSNP (classic) | rs431905507 |
ClinGen | rs431905507 |
ebi | rs431905507 |
HLI | rs431905507 |
Exac | rs431905507 |
Gnomad | rs431905507 |
Varsome | rs431905507 |
LitVar | rs431905507 |
Map | rs431905507 |
PheGenI | rs431905507 |
Biobank | rs431905507 |
1000 genomes | rs431905507 |
hgdp | rs431905507 |
ensembl | rs431905507 |
geneview | rs431905507 |
scholar | rs431905507 |
rs431905507 | |
pharmgkb | rs431905507 |
gwascentral | rs431905507 |
openSNP | rs431905507 |
23andMe | rs431905507 |
SNPshot | rs431905507 |
SNPdbe | rs431905507 |
MSV3d | rs431905507 |
GWAS Ctlg | rs431905507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905507(-;-) |
Alt | rs431905507(-;-) |
Reference | Rs431905507(A;A) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia 3 with or without polydactyly |
Variation | info |
Gene | DYNC2H1 |
CLNDBN | Short-rib thoracic dysplasia 3 with or without polydactyly |
Reversed | 0 |
HGVS | NC_000011.9:g.103080684delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033161.4, |