rs137853973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853973(A;A) |
Make rs137853973(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 58002623 |
Gene | USB1, ZNF319 |
is a | snp |
is | mentioned by |
dbSNP | rs137853973 |
dbSNP (classic) | rs137853973 |
ClinGen | rs137853973 |
ebi | rs137853973 |
HLI | rs137853973 |
Exac | rs137853973 |
Gnomad | rs137853973 |
Varsome | rs137853973 |
LitVar | rs137853973 |
Map | rs137853973 |
PheGenI | rs137853973 |
Biobank | rs137853973 |
1000 genomes | rs137853973 |
hgdp | rs137853973 |
ensembl | rs137853973 |
geneview | rs137853973 |
scholar | rs137853973 |
rs137853973 | |
pharmgkb | rs137853973 |
gwascentral | rs137853973 |
openSNP | rs137853973 |
23andMe | rs137853973 |
SNPshot | rs137853973 |
SNPdbe | rs137853973 |
MSV3d | rs137853973 |
GWAS Ctlg | rs137853973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853973(A;A) |
Alt | rs137853973(A;A) |
Reference | Rs137853973(G;G) |
Significance | Untested |
Disease | Poikiloderma with neutropenia |
Variation | info |
Gene | ZNF319 USB1 |
CLNDBN | Poikiloderma with neutropenia |
Reversed | 0 |
HGVS | NC_000016.9:g.58036527G>A |
CLNSRC | ClinVar |
CLNACC | RCV000144431.1, |
[PMID 20618321] Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.