rs779218846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs779218846(A;A) |
Make rs779218846(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 98077018 |
Gene | NANS, TRIM14 |
is a | snp |
is | mentioned by |
dbSNP | rs779218846 |
dbSNP (classic) | rs779218846 |
ClinGen | rs779218846 |
ebi | rs779218846 |
HLI | rs779218846 |
Exac | rs779218846 |
Gnomad | rs779218846 |
Varsome | rs779218846 |
LitVar | rs779218846 |
Map | rs779218846 |
PheGenI | rs779218846 |
Biobank | rs779218846 |
1000 genomes | rs779218846 |
hgdp | rs779218846 |
ensembl | rs779218846 |
geneview | rs779218846 |
scholar | rs779218846 |
rs779218846 | |
pharmgkb | rs779218846 |
gwascentral | rs779218846 |
openSNP | rs779218846 |
23andMe | rs779218846 |
SNPshot | rs779218846 |
SNPdbe | rs779218846 |
MSV3d | rs779218846 |
GWAS Ctlg | rs779218846 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779218846(A;A) rs779218846(T;T) |
Alt | rs779218846(A;A) rs779218846(T;T) |
Reference | Rs779218846(G;G) |
Significance | Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia Genevieve type |
Variation | info |
Gene | TRIM14 NANS |
CLNDBN | Spondyloepimetaphyseal dysplasia Genevieve type |
Reversed | 0 |
HGVS | NC_000009.11:g.100839300G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000224899.2, |