rs797044537
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs797044537(-;-) |
Make rs797044537(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 235775005 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs797044537 |
dbSNP (classic) | rs797044537 |
ClinGen | rs797044537 |
ebi | rs797044537 |
HLI | rs797044537 |
Exac | rs797044537 |
Gnomad | rs797044537 |
Varsome | rs797044537 |
LitVar | rs797044537 |
Map | rs797044537 |
PheGenI | rs797044537 |
Biobank | rs797044537 |
1000 genomes | rs797044537 |
hgdp | rs797044537 |
ensembl | rs797044537 |
geneview | rs797044537 |
scholar | rs797044537 |
rs797044537 | |
pharmgkb | rs797044537 |
gwascentral | rs797044537 |
openSNP | rs797044537 |
23andMe | rs797044537 |
SNPshot | rs797044537 |
SNPdbe | rs797044537 |
MSV3d | rs797044537 |
GWAS Ctlg | rs797044537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044537(-;-) |
Alt | rs797044537(-;-) |
Reference | Rs797044537(AA;AA) |
Significance | Pathogenic |
Disease | Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chédiak-Higashi syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.235938305_235938306delTT |
CLNSRC | |
CLNACC | RCV000192047.1, |