rs116840810
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs116840810(A;G) |
Make rs116840810(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 3576488 |
Gene | RPS7 |
is a | snp |
is | mentioned by |
dbSNP | rs116840810 |
dbSNP (classic) | rs116840810 |
ClinGen | rs116840810 |
ebi | rs116840810 |
HLI | rs116840810 |
Exac | rs116840810 |
Gnomad | rs116840810 |
Varsome | rs116840810 |
LitVar | rs116840810 |
Map | rs116840810 |
PheGenI | rs116840810 |
Biobank | rs116840810 |
1000 genomes | rs116840810 |
hgdp | rs116840810 |
ensembl | rs116840810 |
geneview | rs116840810 |
scholar | rs116840810 |
rs116840810 | |
pharmgkb | rs116840810 |
gwascentral | rs116840810 |
openSNP | rs116840810 |
23andMe | rs116840810 |
SNPshot | rs116840810 |
SNPdbe | rs116840810 |
MSV3d | rs116840810 |
GWAS Ctlg | rs116840810 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116840810(G;G) |
Alt | rs116840810(G;G) |
Reference | Rs116840810(A;A) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 8 |
Variation | info |
Gene | RPS7 |
CLNDBN | Diamond-Blackfan anemia 8 |
Reversed | 0 |
HGVS | NC_000002.11:g.3624078A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000026708.1, |