rs1057517786
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.2 | Cerebral cavernous angioma associated mutation; variable penetrance |
Make rs1057517786(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 167704889 |
Gene | PDCD10 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517786 |
dbSNP (classic) | rs1057517786 |
ClinGen | rs1057517786 |
ebi | rs1057517786 |
HLI | rs1057517786 |
Exac | rs1057517786 |
Gnomad | rs1057517786 |
Varsome | rs1057517786 |
LitVar | rs1057517786 |
Map | rs1057517786 |
PheGenI | rs1057517786 |
Biobank | rs1057517786 |
1000 genomes | rs1057517786 |
hgdp | rs1057517786 |
ensembl | rs1057517786 |
geneview | rs1057517786 |
scholar | rs1057517786 |
rs1057517786 | |
pharmgkb | rs1057517786 |
gwascentral | rs1057517786 |
openSNP | rs1057517786 |
23andMe | rs1057517786 |
SNPshot | rs1057517786 |
SNPdbe | rs1057517786 |
MSV3d | rs1057517786 |
GWAS Ctlg | rs1057517786 |
Max Magnitude | 5.2 |
aka c.103C>T (p.Arg35Ter)
ClinVar | |
---|---|
Risk | rs1057517786(T;T) |
Alt | rs1057517786(T;T) |
Reference | Rs1057517786(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PDCD10 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.167422677G>A |
CLNSRC | |
CLNACC | RCV000414133.1, |