rs6991
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;T) | 0 | normal |
(G;T) | 6 | Diamond-Blackfan anemia, type 4 (predicted) |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 82538982 |
Gene | RPS17 |
is a | snp |
is | mentioned by |
dbSNP | rs6991 |
dbSNP (classic) | rs6991 |
ClinGen | rs6991 |
ebi | rs6991 |
HLI | rs6991 |
Exac | rs6991 |
Gnomad | rs6991 |
Varsome | rs6991 |
LitVar | rs6991 |
Map | rs6991 |
PheGenI | rs6991 |
Biobank | rs6991 |
1000 genomes | rs6991 |
hgdp | rs6991 |
ensembl | rs6991 |
geneview | rs6991 |
scholar | rs6991 |
rs6991 | |
pharmgkb | rs6991 |
gwascentral | rs6991 |
openSNP | rs6991 |
23andMe | rs6991 |
SNPshot | rs6991 |
SNPdbe | rs6991 |
MSV3d | rs6991 |
GWAS Ctlg | rs6991 |
Max Magnitude | 6 |
As designated on the minus strand in dbSNP, the alleles C and T are normal/benign polymorphisms, whereas the rs6991(G) allele, also known as c.159T>G or p.Tyr53Ter, is a rare mutation associated with Diamond-Blackfan anemia, type 4, a dominantly inherited condition (or one arising from de novo mutation).[PMID 23718193]
ClinVar | |
---|---|
Risk | Rs6991(C;C) rs6991(G;G) |
Alt | Rs6991(C;C) rs6991(G;G) |
Reference | Rs6991(T;T) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 4 not specified |
Variation | info |
Gene | RPS17 |
CLNDBN | Diamond-Blackfan anemia 4 not specified |
Reversed | 1 |
HGVS | NC_000015.9:g.82823390A>C; NC_000015.9:g.83207733A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087020.4, RCV000478127.1, |