rs780379121
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780379121(-;-) |
Make rs780379121(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 90794175 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs780379121 |
dbSNP (classic) | rs780379121 |
ClinGen | rs780379121 |
ebi | rs780379121 |
HLI | rs780379121 |
Exac | rs780379121 |
Gnomad | rs780379121 |
Varsome | rs780379121 |
LitVar | rs780379121 |
Map | rs780379121 |
PheGenI | rs780379121 |
Biobank | rs780379121 |
1000 genomes | rs780379121 |
hgdp | rs780379121 |
ensembl | rs780379121 |
geneview | rs780379121 |
scholar | rs780379121 |
rs780379121 | |
pharmgkb | rs780379121 |
gwascentral | rs780379121 |
openSNP | rs780379121 |
23andMe | rs780379121 |
SNPshot | rs780379121 |
SNPdbe | rs780379121 |
MSV3d | rs780379121 |
GWAS Ctlg | rs780379121 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780379121(-;-) |
Alt | rs780379121(-;-) |
Reference | Rs780379121(G;G) |
Significance | Probable-Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91337405delG |
CLNSRC | Counsyl |
CLNACC | RCV000169440.1, |