rs80338660
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338660(A;A) |
Make rs80338660(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 235766122 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs80338660 |
dbSNP (classic) | rs80338660 |
ClinGen | rs80338660 |
ebi | rs80338660 |
HLI | rs80338660 |
Exac | rs80338660 |
Gnomad | rs80338660 |
Varsome | rs80338660 |
LitVar | rs80338660 |
Map | rs80338660 |
PheGenI | rs80338660 |
Biobank | rs80338660 |
1000 genomes | rs80338660 |
hgdp | rs80338660 |
ensembl | rs80338660 |
geneview | rs80338660 |
scholar | rs80338660 |
rs80338660 | |
pharmgkb | rs80338660 |
gwascentral | rs80338660 |
openSNP | rs80338660 |
23andMe | rs80338660 |
SNPshot | rs80338660 |
SNPdbe | rs80338660 |
MSV3d | rs80338660 |
GWAS Ctlg | rs80338660 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338660(A;A) rs80338660(G;G) rs80338660(T;T) |
Alt | rs80338660(A;A) rs80338660(G;G) rs80338660(T;T) |
Reference | Rs80338660(C;C) |
Significance | Pathogenic |
Disease | Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chédiak-Higashi syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.235929422G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055739.1, |