rs587776690
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587776690(C;C) |
Make rs587776690(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 142556439 |
Gene | ATR |
is a | snp |
is | mentioned by |
dbSNP | rs587776690 |
dbSNP (classic) | rs587776690 |
ClinGen | rs587776690 |
ebi | rs587776690 |
HLI | rs587776690 |
Exac | rs587776690 |
Gnomad | rs587776690 |
Varsome | rs587776690 |
LitVar | rs587776690 |
Map | rs587776690 |
PheGenI | rs587776690 |
Biobank | rs587776690 |
1000 genomes | rs587776690 |
hgdp | rs587776690 |
ensembl | rs587776690 |
geneview | rs587776690 |
scholar | rs587776690 |
rs587776690 | |
pharmgkb | rs587776690 |
gwascentral | rs587776690 |
openSNP | rs587776690 |
23andMe | rs587776690 |
SNPshot | rs587776690 |
SNPdbe | rs587776690 |
MSV3d | rs587776690 |
GWAS Ctlg | rs587776690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776690(C;C) Rs587776690(T;T) |
Alt | rs587776690(C;C) Rs587776690(T;T) |
Reference | Rs587776690(A;A) |
Significance | Pathogenic |
Disease | Seckel syndrome 1 |
Variation | info |
Gene | ATR |
CLNDBN | Seckel syndrome 1 |
Reversed | 1 |
HGVS | NC_000003.11:g.142275281T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008805.3, |