rs370022675
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370022675(G;T) |
Make rs370022675(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 235809893 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs370022675 |
dbSNP (classic) | rs370022675 |
ClinGen | rs370022675 |
ebi | rs370022675 |
HLI | rs370022675 |
Exac | rs370022675 |
Gnomad | rs370022675 |
Varsome | rs370022675 |
LitVar | rs370022675 |
Map | rs370022675 |
PheGenI | rs370022675 |
Biobank | rs370022675 |
1000 genomes | rs370022675 |
hgdp | rs370022675 |
ensembl | rs370022675 |
geneview | rs370022675 |
scholar | rs370022675 |
rs370022675 | |
pharmgkb | rs370022675 |
gwascentral | rs370022675 |
openSNP | rs370022675 |
23andMe | rs370022675 |
SNPshot | rs370022675 |
SNPdbe | rs370022675 |
MSV3d | rs370022675 |
GWAS Ctlg | rs370022675 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370022675(A;A) rs370022675(T;T) |
Alt | rs370022675(A;A) rs370022675(T;T) |
Reference | Rs370022675(G;G) |
Significance | Pathogenic |
Disease | Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chédiak-Higashi syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.235973193G>A |
CLNSRC | |
CLNACC | RCV000192042.1, |