rs113993964
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113993964(-;-) |
Make rs113993964(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 189894305 |
Gene | TP63 |
is a | snp |
is | mentioned by |
dbSNP | rs113993964 |
dbSNP (classic) | rs113993964 |
ClinGen | rs113993964 |
ebi | rs113993964 |
HLI | rs113993964 |
Exac | rs113993964 |
Gnomad | rs113993964 |
Varsome | rs113993964 |
LitVar | rs113993964 |
Map | rs113993964 |
PheGenI | rs113993964 |
Biobank | rs113993964 |
1000 genomes | rs113993964 |
hgdp | rs113993964 |
ensembl | rs113993964 |
geneview | rs113993964 |
scholar | rs113993964 |
rs113993964 | |
pharmgkb | rs113993964 |
gwascentral | rs113993964 |
openSNP | rs113993964 |
23andMe | rs113993964 |
SNPshot | rs113993964 |
SNPdbe | rs113993964 |
MSV3d | rs113993964 |
GWAS Ctlg | rs113993964 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113993964(-;-) |
Alt | rs113993964(-;-) |
Reference | Rs113993964(C;C) |
Significance | Pathogenic |
Disease | ADULT syndrome |
Variation | info |
Gene | TP63 |
CLNDBN | ADULT syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.189612094delC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032228.1, |