rs113993967
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113993967(A;A) |
Make rs113993967(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 189868597 |
Gene | TP63 |
is a | snp |
is | mentioned by |
dbSNP | rs113993967 |
dbSNP (classic) | rs113993967 |
ClinGen | rs113993967 |
ebi | rs113993967 |
HLI | rs113993967 |
Exac | rs113993967 |
Gnomad | rs113993967 |
Varsome | rs113993967 |
LitVar | rs113993967 |
Map | rs113993967 |
PheGenI | rs113993967 |
Biobank | rs113993967 |
1000 genomes | rs113993967 |
hgdp | rs113993967 |
ensembl | rs113993967 |
geneview | rs113993967 |
scholar | rs113993967 |
rs113993967 | |
pharmgkb | rs113993967 |
gwascentral | rs113993967 |
openSNP | rs113993967 |
23andMe | rs113993967 |
SNPshot | rs113993967 |
SNPdbe | rs113993967 |
MSV3d | rs113993967 |
GWAS Ctlg | rs113993967 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113993967(A;A) |
Alt | rs113993967(A;A) |
Reference | Rs113993967(G;G) |
Significance | Pathogenic |
Disease | ADULT syndrome |
Variation | info |
Gene | TP63 |
CLNDBN | ADULT syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.189586386G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006914.2, |