rs797044540
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATACAA;ATACAA) | 0 | common in clinvar |
Make rs797044540(-;-) |
Make rs797044540(-;ATACAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 235712150 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs797044540 |
dbSNP (classic) | rs797044540 |
ClinGen | rs797044540 |
ebi | rs797044540 |
HLI | rs797044540 |
Exac | rs797044540 |
Gnomad | rs797044540 |
Varsome | rs797044540 |
LitVar | rs797044540 |
Map | rs797044540 |
PheGenI | rs797044540 |
Biobank | rs797044540 |
1000 genomes | rs797044540 |
hgdp | rs797044540 |
ensembl | rs797044540 |
geneview | rs797044540 |
scholar | rs797044540 |
rs797044540 | |
pharmgkb | rs797044540 |
gwascentral | rs797044540 |
openSNP | rs797044540 |
23andMe | rs797044540 |
SNPshot | rs797044540 |
SNPdbe | rs797044540 |
MSV3d | rs797044540 |
GWAS Ctlg | rs797044540 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044540(-;-) |
Alt | rs797044540(-;-) |
Reference | Rs797044540(ATACAA;ATACAA) |
Significance | Pathogenic |
Disease | Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chédiak-Higashi syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.235875450_235875455delTTGTAT |
CLNSRC | |
CLNACC | RCV000192050.1, |