rs80338642
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(GCA;GCA) | 0 | common in clinvar |
Make rs80338642(-;G) |
Make rs80338642(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 235830299 |
Gene | LYST |
is a | snp |
is | mentioned by |
dbSNP | rs80338642 |
dbSNP (classic) | rs80338642 |
ClinGen | rs80338642 |
ebi | rs80338642 |
HLI | rs80338642 |
Exac | rs80338642 |
Gnomad | rs80338642 |
Varsome | rs80338642 |
LitVar | rs80338642 |
Map | rs80338642 |
PheGenI | rs80338642 |
Biobank | rs80338642 |
1000 genomes | rs80338642 |
hgdp | rs80338642 |
ensembl | rs80338642 |
geneview | rs80338642 |
scholar | rs80338642 |
rs80338642 | |
pharmgkb | rs80338642 |
gwascentral | rs80338642 |
openSNP | rs80338642 |
23andMe | rs80338642 |
SNPshot | rs80338642 |
SNPdbe | rs80338642 |
MSV3d | rs80338642 |
GWAS Ctlg | rs80338642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338642(G;G) |
Alt | rs80338642(G;G) |
Reference | Rs80338642(-;-) |
Significance | Pathogenic |
Disease | Chediak-Higashi syndrome Chédiak-Higashi syndrome |
Variation | info |
Gene | LYST |
CLNDBN | Chediak-Higashi syndrome, childhood type Chédiak-Higashi syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.235993600dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004014.2, RCV000055720.1, |