rs199558534
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199558534(C;T) |
Make rs199558534(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 855624 |
Gene | ELANE |
is a | snp |
is | mentioned by |
dbSNP | rs199558534 |
dbSNP (classic) | rs199558534 |
ClinGen | rs199558534 |
ebi | rs199558534 |
HLI | rs199558534 |
Exac | rs199558534 |
Gnomad | rs199558534 |
Varsome | rs199558534 |
LitVar | rs199558534 |
Map | rs199558534 |
PheGenI | rs199558534 |
Biobank | rs199558534 |
1000 genomes | rs199558534 |
hgdp | rs199558534 |
ensembl | rs199558534 |
geneview | rs199558534 |
scholar | rs199558534 |
rs199558534 | |
pharmgkb | rs199558534 |
gwascentral | rs199558534 |
openSNP | rs199558534 |
23andMe | rs199558534 |
SNPshot | rs199558534 |
SNPdbe | rs199558534 |
MSV3d | rs199558534 |
GWAS Ctlg | rs199558534 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199558534(T;T) |
Alt | rs199558534(T;T) |
Reference | Rs199558534(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ELANE |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.855624C>T |
CLNSRC | |
CLNACC | RCV000232534.1, |