rs587777506
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCA;CCA) | 0 | common in clinvar |
(TGG;TGG) | 0 | common in clinvar |
Make rs587777506(-;-) |
Make rs587777506(-;CCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 25247714 |
Gene | DNMT3A |
is a | snp |
is | mentioned by |
dbSNP | rs587777506 |
dbSNP (classic) | rs587777506 |
ClinGen | rs587777506 |
ebi | rs587777506 |
HLI | rs587777506 |
Exac | rs587777506 |
Gnomad | rs587777506 |
Varsome | rs587777506 |
LitVar | rs587777506 |
Map | rs587777506 |
PheGenI | rs587777506 |
Biobank | rs587777506 |
1000 genomes | rs587777506 |
hgdp | rs587777506 |
ensembl | rs587777506 |
geneview | rs587777506 |
scholar | rs587777506 |
rs587777506 | |
pharmgkb | rs587777506 |
gwascentral | rs587777506 |
openSNP | rs587777506 |
23andMe | rs587777506 |
SNPshot | rs587777506 |
SNPdbe | rs587777506 |
MSV3d | rs587777506 |
GWAS Ctlg | rs587777506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777506(CCA;CCA) rs587777506(-;-) |
Alt | Rs587777506(CCA;CCA) rs587777506(-;-) |
Reference | Rs587777506(TGG;TGG) |
Significance | Pathogenic |
Disease | Tatton-Brown-rahman syndrome |
Variation | info |
Gene | DNMT3A |
CLNDBN | Tatton-Brown-rahman syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.25470583_25470585delCCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128558.2, |