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rs35518301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs35518301(A;G)
Make rs35518301(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234514
GeneHBD
is asnp
is mentioned by
dbSNPrs35518301
ebirs35518301
HLIrs35518301
Exacrs35518301
Varsomers35518301
Maprs35518301
PheGenIrs35518301
hapmaprs35518301
1000 genomesrs35518301
hgdprs35518301
ensemblrs35518301
gopubmedrs35518301
geneviewrs35518301
scholarrs35518301
googlers35518301
pharmgkbrs35518301
gwascentralrs35518301
openSNPrs35518301
23andMers35518301
23andMe allrs35518301
SNP Nexus

SNPshotrs35518301
SNPdbers35518301
MSV3drs35518301
GWAS Ctlgrs35518301
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM142000
Desc
Variant0046
Relatedalso


ClinVar
Risk rs35518301(G;G)
Alt rs35518301(G;G)
Reference rs35518301(A;A)
Significance Pathogenic
Disease Delta-plus-thalassemia
Variation info
Gene HBD
CLNDBN Delta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5255744T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016240.22,



[PMID 15921167] Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.


[PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.