rs367543035
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAA;CAA) | 0 | common in clinvar |
Make rs367543035(-;-) |
Make rs367543035(-;CAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90749825 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs367543035 |
dbSNP (classic) | rs367543035 |
ClinGen | rs367543035 |
ebi | rs367543035 |
HLI | rs367543035 |
Exac | rs367543035 |
Gnomad | rs367543035 |
Varsome | rs367543035 |
LitVar | rs367543035 |
Map | rs367543035 |
PheGenI | rs367543035 |
Biobank | rs367543035 |
1000 genomes | rs367543035 |
hgdp | rs367543035 |
ensembl | rs367543035 |
geneview | rs367543035 |
scholar | rs367543035 |
rs367543035 | |
pharmgkb | rs367543035 |
gwascentral | rs367543035 |
openSNP | rs367543035 |
23andMe | rs367543035 |
SNPshot | rs367543035 |
SNPdbe | rs367543035 |
MSV3d | rs367543035 |
GWAS Ctlg | rs367543035 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543035(-;-) |
Alt | rs367543035(-;-) |
Reference | Rs367543035(CAA;CAA) |
Significance | Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91293055_91293057delCAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005788.2, |