rs780539887
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs780539887(-;-) |
Make rs780539887(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 103121038 |
Gene | DYNC2H1 |
is a | snp |
is | mentioned by |
dbSNP | rs780539887 |
dbSNP (classic) | rs780539887 |
ClinGen | rs780539887 |
ebi | rs780539887 |
HLI | rs780539887 |
Exac | rs780539887 |
Gnomad | rs780539887 |
Varsome | rs780539887 |
LitVar | rs780539887 |
Map | rs780539887 |
PheGenI | rs780539887 |
Biobank | rs780539887 |
1000 genomes | rs780539887 |
hgdp | rs780539887 |
ensembl | rs780539887 |
geneview | rs780539887 |
scholar | rs780539887 |
rs780539887 | |
pharmgkb | rs780539887 |
gwascentral | rs780539887 |
openSNP | rs780539887 |
23andMe | rs780539887 |
SNPshot | rs780539887 |
SNPdbe | rs780539887 |
MSV3d | rs780539887 |
GWAS Ctlg | rs780539887 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780539887(-;-) |
Alt | rs780539887(-;-) |
Reference | Rs780539887(T;T) |
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.102991767delT |
CLNSRC | |
CLNACC | RCV000180552.1, |