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rs6991

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome15
Position82538982
GeneRPS17, RPS17L
is asnp
is mentioned by
dbSNPrs6991
ebirs6991
HLIrs6991
Exacrs6991
Varsomers6991
Maprs6991
PheGenIrs6991
hapmaprs6991
1000 genomesrs6991
hgdprs6991
ensemblrs6991
gopubmedrs6991
geneviewrs6991
scholarrs6991
googlers6991
pharmgkbrs6991
gwascentralrs6991
openSNPrs6991
23andMers6991
23andMe allrs6991
SNP Nexus

SNPshotrs6991
SNPdbers6991
MSV3drs6991
GWAS Ctlgrs6991
Max Magnitude6

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,G;C,G)
Alt rs6991(C,G;C,G)
Reference rs6991(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.82823390A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087020.3,