rs1060501412
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAGCTTTGT;AGAGCTTTGT) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 127818720 |
Gene | ENG, LOC102723566 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501412 |
dbSNP (classic) | rs1060501412 |
ClinGen | rs1060501412 |
ebi | rs1060501412 |
HLI | rs1060501412 |
Exac | rs1060501412 |
Gnomad | rs1060501412 |
Varsome | rs1060501412 |
LitVar | rs1060501412 |
Map | rs1060501412 |
PheGenI | rs1060501412 |
Biobank | rs1060501412 |
1000 genomes | rs1060501412 |
hgdp | rs1060501412 |
ensembl | rs1060501412 |
geneview | rs1060501412 |
scholar | rs1060501412 |
rs1060501412 | |
pharmgkb | rs1060501412 |
gwascentral | rs1060501412 |
openSNP | rs1060501412 |
23andMe | rs1060501412 |
SNPshot | rs1060501412 |
SNPdbe | rs1060501412 |
MSV3d | rs1060501412 |
GWAS Ctlg | rs1060501412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501412(-;-) |
Alt | rs1060501412(-;-) |
Reference | Rs1060501412(AGAGCTTTGT;AGAGCTTTGT) |
Significance | Pathogenic |
Disease | Osler hemorrhagic telangiectasia syndrome |
Variation | info |
Gene | ENG LOC102723566 |
CLNDBN | Osler hemorrhagic telangiectasia syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.130580999_130581008delACAAAGCTCT |
CLNSRC | |
CLNACC | RCV000457213.1, |