rs878855323
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878855323(-;CCATAACCTCTC) |
Make rs878855323(CCATAACCTCTC;CCATAACCTCTC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 853306 |
Gene | ELANE |
is a | snp |
is | mentioned by |
dbSNP | rs878855323 |
dbSNP (classic) | rs878855323 |
ClinGen | rs878855323 |
ebi | rs878855323 |
HLI | rs878855323 |
Exac | rs878855323 |
Gnomad | rs878855323 |
Varsome | rs878855323 |
LitVar | rs878855323 |
Map | rs878855323 |
PheGenI | rs878855323 |
Biobank | rs878855323 |
1000 genomes | rs878855323 |
hgdp | rs878855323 |
ensembl | rs878855323 |
geneview | rs878855323 |
scholar | rs878855323 |
rs878855323 | |
pharmgkb | rs878855323 |
gwascentral | rs878855323 |
openSNP | rs878855323 |
23andMe | rs878855323 |
SNPshot | rs878855323 |
SNPdbe | rs878855323 |
MSV3d | rs878855323 |
GWAS Ctlg | rs878855323 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855323(CCATAACCTCTC;CCATAACCTCTC) rs878855323(CCCATAACCTCT;CCCATAACCTCT) |
Alt | rs878855323(CCATAACCTCTC;CCATAACCTCTC) rs878855323(CCCATAACCTCT;CCCATAACCTCT) |
Reference | Rs878855323(-;-) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ELANE |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.853295_853306dupCCATAACCTCTC |
CLNSRC | |
CLNACC | RCV000226787.1, |