rs367543020
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs367543020(-;-) |
Make rs367543020(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90804289 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs367543020 |
dbSNP (classic) | rs367543020 |
ClinGen | rs367543020 |
ebi | rs367543020 |
HLI | rs367543020 |
Exac | rs367543020 |
Gnomad | rs367543020 |
Varsome | rs367543020 |
LitVar | rs367543020 |
Map | rs367543020 |
PheGenI | rs367543020 |
Biobank | rs367543020 |
1000 genomes | rs367543020 |
hgdp | rs367543020 |
ensembl | rs367543020 |
geneview | rs367543020 |
scholar | rs367543020 |
rs367543020 | |
pharmgkb | rs367543020 |
gwascentral | rs367543020 |
openSNP | rs367543020 |
23andMe | rs367543020 |
SNPshot | rs367543020 |
SNPdbe | rs367543020 |
MSV3d | rs367543020 |
GWAS Ctlg | rs367543020 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543020(-;-) |
Alt | rs367543020(-;-) |
Reference | Rs367543020(A;A) |
Significance | Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91347519delA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034913.1, |