rs863225257
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs863225257(-;-) |
Make rs863225257(-;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 89280331 |
Gene | ANKRD11 |
is a | snp |
is | mentioned by |
dbSNP | rs863225257 |
dbSNP (classic) | rs863225257 |
ClinGen | rs863225257 |
ebi | rs863225257 |
HLI | rs863225257 |
Exac | rs863225257 |
Gnomad | rs863225257 |
Varsome | rs863225257 |
LitVar | rs863225257 |
Map | rs863225257 |
PheGenI | rs863225257 |
Biobank | rs863225257 |
1000 genomes | rs863225257 |
hgdp | rs863225257 |
ensembl | rs863225257 |
geneview | rs863225257 |
scholar | rs863225257 |
rs863225257 | |
pharmgkb | rs863225257 |
gwascentral | rs863225257 |
openSNP | rs863225257 |
23andMe | rs863225257 |
SNPshot | rs863225257 |
SNPdbe | rs863225257 |
MSV3d | rs863225257 |
GWAS Ctlg | rs863225257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225257(-;-) |
Alt | rs863225257(-;-) |
Reference | Rs863225257(GT;GT) |
Significance | Pathogenic |
Disease | KBG syndrome |
Variation | info |
Gene | ANKRD11 |
CLNDBN | KBG syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.89346739_89346740delAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201845.2, |