rs587777120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777120(-;-) |
Make rs587777120(-;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 23693853 |
Gene | RPL11 |
is a | snp |
is | mentioned by |
dbSNP | rs587777120 |
dbSNP (classic) | rs587777120 |
ClinGen | rs587777120 |
ebi | rs587777120 |
HLI | rs587777120 |
Exac | rs587777120 |
Gnomad | rs587777120 |
Varsome | rs587777120 |
LitVar | rs587777120 |
Map | rs587777120 |
PheGenI | rs587777120 |
Biobank | rs587777120 |
1000 genomes | rs587777120 |
hgdp | rs587777120 |
ensembl | rs587777120 |
geneview | rs587777120 |
scholar | rs587777120 |
rs587777120 | |
pharmgkb | rs587777120 |
gwascentral | rs587777120 |
openSNP | rs587777120 |
23andMe | rs587777120 |
SNPshot | rs587777120 |
SNPdbe | rs587777120 |
MSV3d | rs587777120 |
GWAS Ctlg | rs587777120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777120(-;-) |
Alt | rs587777120(-;-) |
Reference | Rs587777120(T;T) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 7 |
Variation | info |
Gene | RPL11 |
CLNDBN | Diamond-Blackfan anemia 7 |
Reversed | 0 |
HGVS | NC_000001.10:g.24020343delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087041.3, |