rs763407068
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763407068(C;C) |
Make rs763407068(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 89280330 |
Gene | ANKRD11 |
is a | snp |
is | mentioned by |
dbSNP | rs763407068 |
dbSNP (classic) | rs763407068 |
ClinGen | rs763407068 |
ebi | rs763407068 |
HLI | rs763407068 |
Exac | rs763407068 |
Gnomad | rs763407068 |
Varsome | rs763407068 |
LitVar | rs763407068 |
Map | rs763407068 |
PheGenI | rs763407068 |
Biobank | rs763407068 |
1000 genomes | rs763407068 |
hgdp | rs763407068 |
ensembl | rs763407068 |
geneview | rs763407068 |
scholar | rs763407068 |
rs763407068 | |
pharmgkb | rs763407068 |
gwascentral | rs763407068 |
openSNP | rs763407068 |
23andMe | rs763407068 |
SNPshot | rs763407068 |
SNPdbe | rs763407068 |
MSV3d | rs763407068 |
GWAS Ctlg | rs763407068 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763407068(A;A) rs763407068(C;C) |
Alt | rs763407068(A;A) rs763407068(C;C) |
Reference | Rs763407068(G;G) |
Significance | Pathogenic |
Disease | KBG syndrome |
Variation | info |
Gene | ANKRD11 |
CLNDBN | KBG syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.89346738G>C |
CLNSRC | |
CLNACC | RCV000417107.1, |