rs80338654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338654(C;G) |
Make rs80338654(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 235793567 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs80338654 |
dbSNP (classic) | rs80338654 |
ClinGen | rs80338654 |
ebi | rs80338654 |
HLI | rs80338654 |
Exac | rs80338654 |
Gnomad | rs80338654 |
Varsome | rs80338654 |
LitVar | rs80338654 |
Map | rs80338654 |
PheGenI | rs80338654 |
Biobank | rs80338654 |
1000 genomes | rs80338654 |
hgdp | rs80338654 |
ensembl | rs80338654 |
geneview | rs80338654 |
scholar | rs80338654 |
rs80338654 | |
pharmgkb | rs80338654 |
gwascentral | rs80338654 |
openSNP | rs80338654 |
23andMe | rs80338654 |
SNPshot | rs80338654 |
SNPdbe | rs80338654 |
MSV3d | rs80338654 |
GWAS Ctlg | rs80338654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338654(G;G) |
Alt | rs80338654(G;G) |
Reference | Rs80338654(C;C) |
Significance | Pathogenic |
Disease | Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chédiak-Higashi syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.235956867G>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055732.1, |