rs797044536
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044536(-;C) |
Make rs797044536(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 235800381 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs797044536 |
dbSNP (classic) | rs797044536 |
ClinGen | rs797044536 |
ebi | rs797044536 |
HLI | rs797044536 |
Exac | rs797044536 |
Gnomad | rs797044536 |
Varsome | rs797044536 |
LitVar | rs797044536 |
Map | rs797044536 |
PheGenI | rs797044536 |
Biobank | rs797044536 |
1000 genomes | rs797044536 |
hgdp | rs797044536 |
ensembl | rs797044536 |
geneview | rs797044536 |
scholar | rs797044536 |
rs797044536 | |
pharmgkb | rs797044536 |
gwascentral | rs797044536 |
openSNP | rs797044536 |
23andMe | rs797044536 |
SNPshot | rs797044536 |
SNPdbe | rs797044536 |
MSV3d | rs797044536 |
GWAS Ctlg | rs797044536 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044536(C;C) |
Alt | rs797044536(C;C) |
Reference | Rs797044536(-;-) |
Significance | Pathogenic |
Disease | Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chédiak-Higashi syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.235963682dupG |
CLNSRC | |
CLNACC | RCV000192045.1, |