rs367543024
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs367543024(-;-) |
Make rs367543024(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90769537 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs367543024 |
dbSNP (classic) | rs367543024 |
ClinGen | rs367543024 |
ebi | rs367543024 |
HLI | rs367543024 |
Exac | rs367543024 |
Gnomad | rs367543024 |
Varsome | rs367543024 |
LitVar | rs367543024 |
Map | rs367543024 |
PheGenI | rs367543024 |
Biobank | rs367543024 |
1000 genomes | rs367543024 |
hgdp | rs367543024 |
ensembl | rs367543024 |
geneview | rs367543024 |
scholar | rs367543024 |
rs367543024 | |
pharmgkb | rs367543024 |
gwascentral | rs367543024 |
openSNP | rs367543024 |
23andMe | rs367543024 |
SNPshot | rs367543024 |
SNPdbe | rs367543024 |
MSV3d | rs367543024 |
GWAS Ctlg | rs367543024 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543024(-;-) |
Alt | rs367543024(-;-) |
Reference | Rs367543024(AG;AG) |
Significance | Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91312767_91312768delAG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034897.1, |