rs116840809
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs116840809(C;T) |
Make rs116840809(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 197954142 |
Gene | IQCG, RPL35A |
is a | snp |
is | mentioned by |
dbSNP | rs116840809 |
dbSNP (classic) | rs116840809 |
ClinGen | rs116840809 |
ebi | rs116840809 |
HLI | rs116840809 |
Exac | rs116840809 |
Gnomad | rs116840809 |
Varsome | rs116840809 |
LitVar | rs116840809 |
Map | rs116840809 |
PheGenI | rs116840809 |
Biobank | rs116840809 |
1000 genomes | rs116840809 |
hgdp | rs116840809 |
ensembl | rs116840809 |
geneview | rs116840809 |
scholar | rs116840809 |
rs116840809 | |
pharmgkb | rs116840809 |
gwascentral | rs116840809 |
openSNP | rs116840809 |
23andMe | rs116840809 |
SNPshot | rs116840809 |
SNPdbe | rs116840809 |
MSV3d | rs116840809 |
GWAS Ctlg | rs116840809 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116840809(T;T) |
Alt | rs116840809(T;T) |
Reference | Rs116840809(C;C) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 5 |
Variation | info |
Gene | IQCG RPL35A |
CLNDBN | Diamond-Blackfan anemia 5 |
Reversed | 0 |
HGVS | NC_000003.11:g.197681013C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013877.27, |