rs367543022
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs367543022(-;A) |
Make rs367543022(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90798202 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs367543022 |
dbSNP (classic) | rs367543022 |
ClinGen | rs367543022 |
ebi | rs367543022 |
HLI | rs367543022 |
Exac | rs367543022 |
Gnomad | rs367543022 |
Varsome | rs367543022 |
LitVar | rs367543022 |
Map | rs367543022 |
PheGenI | rs367543022 |
Biobank | rs367543022 |
1000 genomes | rs367543022 |
hgdp | rs367543022 |
ensembl | rs367543022 |
geneview | rs367543022 |
scholar | rs367543022 |
rs367543022 | |
pharmgkb | rs367543022 |
gwascentral | rs367543022 |
openSNP | rs367543022 |
23andMe | rs367543022 |
SNPshot | rs367543022 |
SNPdbe | rs367543022 |
MSV3d | rs367543022 |
GWAS Ctlg | rs367543022 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543022(A;A) |
Alt | rs367543022(A;A) |
Reference | Rs367543022(-;-) |
Significance | Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91341432dupA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034907.1, |