rs137853152
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853152(C;T) |
Make rs137853152(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90769559 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs137853152 |
dbSNP (classic) | rs137853152 |
ClinGen | rs137853152 |
ebi | rs137853152 |
HLI | rs137853152 |
Exac | rs137853152 |
Gnomad | rs137853152 |
Varsome | rs137853152 |
LitVar | rs137853152 |
Map | rs137853152 |
PheGenI | rs137853152 |
Biobank | rs137853152 |
1000 genomes | rs137853152 |
hgdp | rs137853152 |
ensembl | rs137853152 |
geneview | rs137853152 |
scholar | rs137853152 |
rs137853152 | |
pharmgkb | rs137853152 |
gwascentral | rs137853152 |
openSNP | rs137853152 |
23andMe | rs137853152 |
SNPshot | rs137853152 |
SNPdbe | rs137853152 |
MSV3d | rs137853152 |
GWAS Ctlg | rs137853152 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853152(T;T) |
Alt | rs137853152(T;T) |
Reference | Rs137853152(C;C) |
Significance | Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91312789C>T |
CLNSRC | GeneReviews OMIM Allelic Variant |
CLNACC | RCV000034895.2, |