rs878852982
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878852982(C;T) |
Make rs878852982(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 98080921 |
Gene | NANS, TRIM14 |
is a | snp |
is | mentioned by |
dbSNP | rs878852982 |
dbSNP (classic) | rs878852982 |
ClinGen | rs878852982 |
ebi | rs878852982 |
HLI | rs878852982 |
Exac | rs878852982 |
Gnomad | rs878852982 |
Varsome | rs878852982 |
LitVar | rs878852982 |
Map | rs878852982 |
PheGenI | rs878852982 |
Biobank | rs878852982 |
1000 genomes | rs878852982 |
hgdp | rs878852982 |
ensembl | rs878852982 |
geneview | rs878852982 |
scholar | rs878852982 |
rs878852982 | |
pharmgkb | rs878852982 |
gwascentral | rs878852982 |
openSNP | rs878852982 |
23andMe | rs878852982 |
SNPshot | rs878852982 |
SNPdbe | rs878852982 |
MSV3d | rs878852982 |
GWAS Ctlg | rs878852982 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878852982(T;T) |
Alt | rs878852982(T;T) |
Reference | Rs878852982(C;C) |
Significance | Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia Genevieve type |
Variation | info |
Gene | TRIM14 NANS |
CLNDBN | Spondyloepimetaphyseal dysplasia Genevieve type |
Reversed | 0 |
HGVS | NC_000009.11:g.100843203C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000224653.2, |