rs876661318
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATATACTCAGAATCCTGG;ATATACTCAGAATCCTGG) | 0 | common in clinvar |
Make rs876661318(-;-) |
Make rs876661318(-;TATACTCAGAATCCTGGA) |
Make rs876661318(TATACTCAGAATCCTGGA;TATACTCAGAATCCTGGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 41125903 |
Gene | EP300 |
is a | snp |
is | mentioned by |
dbSNP | rs876661318 |
dbSNP (classic) | rs876661318 |
ClinGen | rs876661318 |
ebi | rs876661318 |
HLI | rs876661318 |
Exac | rs876661318 |
Gnomad | rs876661318 |
Varsome | rs876661318 |
LitVar | rs876661318 |
Map | rs876661318 |
PheGenI | rs876661318 |
Biobank | rs876661318 |
1000 genomes | rs876661318 |
hgdp | rs876661318 |
ensembl | rs876661318 |
geneview | rs876661318 |
scholar | rs876661318 |
rs876661318 | |
pharmgkb | rs876661318 |
gwascentral | rs876661318 |
openSNP | rs876661318 |
23andMe | rs876661318 |
SNPshot | rs876661318 |
SNPdbe | rs876661318 |
MSV3d | rs876661318 |
GWAS Ctlg | rs876661318 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661318(-;-) |
Alt | rs876661318(-;-) |
Reference | Rs876661318(ATATACTCAGAATCCTGG;ATATACTCAGAATCCTGG) |
Significance | Pathogenic |
Disease | Rubinstein-Taybi syndrome 2 |
Variation | info |
Gene | EP300 |
CLNDBN | Rubinstein-Taybi syndrome 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.41521907_41521924del18 |
CLNSRC | |
CLNACC | RCV000223783.1, |