rs878853267
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878853267(-;T) |
Make rs878853267(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 98076958 |
Gene | NANS, TRIM14 |
is a | snp |
is | mentioned by |
dbSNP | rs878853267 |
dbSNP (classic) | rs878853267 |
ClinGen | rs878853267 |
ebi | rs878853267 |
HLI | rs878853267 |
Exac | rs878853267 |
Gnomad | rs878853267 |
Varsome | rs878853267 |
LitVar | rs878853267 |
Map | rs878853267 |
PheGenI | rs878853267 |
Biobank | rs878853267 |
1000 genomes | rs878853267 |
hgdp | rs878853267 |
ensembl | rs878853267 |
geneview | rs878853267 |
scholar | rs878853267 |
rs878853267 | |
pharmgkb | rs878853267 |
gwascentral | rs878853267 |
openSNP | rs878853267 |
23andMe | rs878853267 |
SNPshot | rs878853267 |
SNPdbe | rs878853267 |
MSV3d | rs878853267 |
GWAS Ctlg | rs878853267 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853267(T;T) |
Alt | rs878853267(T;T) |
Reference | Rs878853267(-;-) |
Significance | Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia Genevieve type |
Variation | info |
Gene | TRIM14 NANS |
CLNDBN | Spondyloepimetaphyseal dysplasia Genevieve type |
Reversed | 0 |
HGVS | NC_000009.11:g.100839240dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000224496.2, |