rs116840811
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs116840811(G;G) |
Make rs116840811(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 82540427 |
Gene | RPS17 |
is a | snp |
is | mentioned by |
dbSNP | rs116840811 |
dbSNP (classic) | rs116840811 |
ClinGen | rs116840811 |
ebi | rs116840811 |
HLI | rs116840811 |
Exac | rs116840811 |
Gnomad | rs116840811 |
Varsome | rs116840811 |
LitVar | rs116840811 |
Map | rs116840811 |
PheGenI | rs116840811 |
Biobank | rs116840811 |
1000 genomes | rs116840811 |
hgdp | rs116840811 |
ensembl | rs116840811 |
geneview | rs116840811 |
scholar | rs116840811 |
rs116840811 | |
pharmgkb | rs116840811 |
gwascentral | rs116840811 |
openSNP | rs116840811 |
23andMe | rs116840811 |
SNPshot | rs116840811 |
SNPdbe | rs116840811 |
MSV3d | rs116840811 |
GWAS Ctlg | rs116840811 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116840811(G;G) |
Alt | rs116840811(G;G) |
Reference | Rs116840811(T;T) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 4 |
Variation | info |
Gene | RPS17 |
CLNDBN | Diamond-Blackfan anemia 4 |
Reversed | 1 |
HGVS | NC_000015.9:g.82824835A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013873.11, |