rs879253753
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs879253753(-;A) |
Make rs879253753(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 89280526 |
Gene | ANKRD11 |
is a | snp |
is | mentioned by |
dbSNP | rs879253753 |
dbSNP (classic) | rs879253753 |
ClinGen | rs879253753 |
ebi | rs879253753 |
HLI | rs879253753 |
Exac | rs879253753 |
Gnomad | rs879253753 |
Varsome | rs879253753 |
LitVar | rs879253753 |
Map | rs879253753 |
PheGenI | rs879253753 |
Biobank | rs879253753 |
1000 genomes | rs879253753 |
hgdp | rs879253753 |
ensembl | rs879253753 |
geneview | rs879253753 |
scholar | rs879253753 |
rs879253753 | |
pharmgkb | rs879253753 |
gwascentral | rs879253753 |
openSNP | rs879253753 |
23andMe | rs879253753 |
SNPshot | rs879253753 |
SNPdbe | rs879253753 |
MSV3d | rs879253753 |
GWAS Ctlg | rs879253753 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253753(A;A) |
Alt | rs879253753(A;A) |
Reference | Rs879253753(-;-) |
Significance | Pathogenic |
Disease | KBG syndrome |
Variation | info |
Gene | ANKRD11 |
CLNDBN | KBG syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.89346935dupT |
CLNSRC | |
CLNACC | RCV000234963.1, |