rs373842615
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 4.3 | Hereditary hemorrhagic telangiectasia |
(T;T) | 0 | common in clinvar |
Make rs373842615(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 127819662 |
Gene | ENG, LOC102723566 |
is a | snp |
is | mentioned by |
dbSNP | rs373842615 |
dbSNP (classic) | rs373842615 |
ClinGen | rs373842615 |
ebi | rs373842615 |
HLI | rs373842615 |
Exac | rs373842615 |
Gnomad | rs373842615 |
Varsome | rs373842615 |
LitVar | rs373842615 |
Map | rs373842615 |
PheGenI | rs373842615 |
Biobank | rs373842615 |
1000 genomes | rs373842615 |
hgdp | rs373842615 |
ensembl | rs373842615 |
geneview | rs373842615 |
scholar | rs373842615 |
rs373842615 | |
pharmgkb | rs373842615 |
gwascentral | rs373842615 |
openSNP | rs373842615 |
23andMe | rs373842615 |
SNPshot | rs373842615 |
SNPdbe | rs373842615 |
MSV3d | rs373842615 |
GWAS Ctlg | rs373842615 |
Max Magnitude | 4.3 |
ClinVar | |
---|---|
Risk | rs373842615(C;C) |
Alt | rs373842615(C;C) |
Reference | Rs373842615(T;T) |
Significance | Pathogenic |
Disease | Haemorrhagic telangiectasia 1 not provided |
Variation | info |
Gene | ENG LOC102723566 |
CLNDBN | Haemorrhagic telangiectasia 1 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.130581941T>C |
CLNSRC | |
CLNACC | RCV000149883.1, RCV000256118.1, |