rs367543017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs367543017(C;G) |
Make rs367543017(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90798257 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs367543017 |
dbSNP (classic) | rs367543017 |
ClinGen | rs367543017 |
ebi | rs367543017 |
HLI | rs367543017 |
Exac | rs367543017 |
Gnomad | rs367543017 |
Varsome | rs367543017 |
LitVar | rs367543017 |
Map | rs367543017 |
PheGenI | rs367543017 |
Biobank | rs367543017 |
1000 genomes | rs367543017 |
hgdp | rs367543017 |
ensembl | rs367543017 |
geneview | rs367543017 |
scholar | rs367543017 |
rs367543017 | |
pharmgkb | rs367543017 |
gwascentral | rs367543017 |
openSNP | rs367543017 |
23andMe | rs367543017 |
SNPshot | rs367543017 |
SNPdbe | rs367543017 |
MSV3d | rs367543017 |
GWAS Ctlg | rs367543017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543017(G;G) rs367543017(T;T) |
Alt | rs367543017(G;G) rs367543017(T;T) |
Reference | Rs367543017(C;C) |
Significance | Pathogenic |
Disease | Bloom syndrome not specified |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome not specified |
Reversed | 0 |
HGVS | NC_000015.9:g.91341487C>G; NC_000015.9:g.91341487C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034909.1, RCV000120229.1, |