rs80338658
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs80338658(A;A) |
Make rs80338658(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 235781018 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs80338658 |
dbSNP (classic) | rs80338658 |
ClinGen | rs80338658 |
ebi | rs80338658 |
HLI | rs80338658 |
Exac | rs80338658 |
Gnomad | rs80338658 |
Varsome | rs80338658 |
LitVar | rs80338658 |
Map | rs80338658 |
PheGenI | rs80338658 |
Biobank | rs80338658 |
1000 genomes | rs80338658 |
hgdp | rs80338658 |
ensembl | rs80338658 |
geneview | rs80338658 |
scholar | rs80338658 |
rs80338658 | |
pharmgkb | rs80338658 |
gwascentral | rs80338658 |
openSNP | rs80338658 |
23andMe | rs80338658 |
SNPshot | rs80338658 |
SNPdbe | rs80338658 |
MSV3d | rs80338658 |
GWAS Ctlg | rs80338658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338658(A;A) rs80338658(C;C) |
Alt | rs80338658(A;A) rs80338658(C;C) |
Reference | Rs80338658(T;T) |
Significance | Pathogenic |
Disease | Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chédiak-Higashi syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.235944318A>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055736.1, |