rs770689762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs770689762(C;T) |
Make rs770689762(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 17182696 |
Gene | CECR1 |
is a | snp |
is | mentioned by |
dbSNP | rs770689762 |
dbSNP (classic) | rs770689762 |
ClinGen | rs770689762 |
ebi | rs770689762 |
HLI | rs770689762 |
Exac | rs770689762 |
Gnomad | rs770689762 |
Varsome | rs770689762 |
LitVar | rs770689762 |
Map | rs770689762 |
PheGenI | rs770689762 |
Biobank | rs770689762 |
1000 genomes | rs770689762 |
hgdp | rs770689762 |
ensembl | rs770689762 |
geneview | rs770689762 |
scholar | rs770689762 |
rs770689762 | |
pharmgkb | rs770689762 |
gwascentral | rs770689762 |
openSNP | rs770689762 |
23andMe | rs770689762 |
SNPshot | rs770689762 |
SNPdbe | rs770689762 |
MSV3d | rs770689762 |
GWAS Ctlg | rs770689762 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770689762(T;T) |
Alt | rs770689762(T;T) |
Reference | Rs770689762(C;C) |
Significance | Pathogenic |
Disease | Idiopathic livedo reticularis with systemic involvement |
Variation | info |
Gene | CECR1 |
CLNDBN | Idiopathic livedo reticularis with systemic involvement |
Reversed | 0 |
HGVS | NC_000022.10:g.17663586C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169759.4, |