rs869025572
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869025572(-;-) |
Make rs869025572(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 47122608 |
Gene | SETD2 |
is a | snp |
is | mentioned by |
dbSNP | rs869025572 |
dbSNP (classic) | rs869025572 |
ClinGen | rs869025572 |
ebi | rs869025572 |
HLI | rs869025572 |
Exac | rs869025572 |
Gnomad | rs869025572 |
Varsome | rs869025572 |
LitVar | rs869025572 |
Map | rs869025572 |
PheGenI | rs869025572 |
Biobank | rs869025572 |
1000 genomes | rs869025572 |
hgdp | rs869025572 |
ensembl | rs869025572 |
geneview | rs869025572 |
scholar | rs869025572 |
rs869025572 | |
pharmgkb | rs869025572 |
gwascentral | rs869025572 |
openSNP | rs869025572 |
23andMe | rs869025572 |
SNPshot | rs869025572 |
SNPdbe | rs869025572 |
MSV3d | rs869025572 |
GWAS Ctlg | rs869025572 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025572(-;-) |
Alt | rs869025572(-;-) |
Reference | Rs869025572(T;T) |
Significance | Pathogenic |
Disease | Luscan-lumish syndrome |
Variation | info |
Gene | SETD2 |
CLNDBN | Luscan-lumish syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.47164098delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208551.2, |