rs863223319
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863223319(C;C) |
Make rs863223319(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 89274958 |
Gene | ANKRD11 |
is a | snp |
is | mentioned by |
dbSNP | rs863223319 |
dbSNP (classic) | rs863223319 |
ClinGen | rs863223319 |
ebi | rs863223319 |
HLI | rs863223319 |
Exac | rs863223319 |
Gnomad | rs863223319 |
Varsome | rs863223319 |
LitVar | rs863223319 |
Map | rs863223319 |
PheGenI | rs863223319 |
Biobank | rs863223319 |
1000 genomes | rs863223319 |
hgdp | rs863223319 |
ensembl | rs863223319 |
geneview | rs863223319 |
scholar | rs863223319 |
rs863223319 | |
pharmgkb | rs863223319 |
gwascentral | rs863223319 |
openSNP | rs863223319 |
23andMe | rs863223319 |
SNPshot | rs863223319 |
SNPdbe | rs863223319 |
MSV3d | rs863223319 |
GWAS Ctlg | rs863223319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223319(A;A) rs863223319(C;C) |
Alt | rs863223319(A;A) rs863223319(C;C) |
Reference | Rs863223319(G;G) |
Significance | Pathogenic |
Disease | KBG syndrome not provided |
Variation | info |
Gene | ANKRD11 |
CLNDBN | KBG syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.89341366C>G; NC_000016.9:g.89341366C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023875.3, RCV000418665.1, |