rs33915112
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33915112(A;C) |
Make rs33915112(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226942 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33915112 |
dbSNP (classic) | rs33915112 |
ClinGen | rs33915112 |
ebi | rs33915112 |
HLI | rs33915112 |
Exac | rs33915112 |
Gnomad | rs33915112 |
Varsome | rs33915112 |
LitVar | rs33915112 |
Map | rs33915112 |
PheGenI | rs33915112 |
Biobank | rs33915112 |
1000 genomes | rs33915112 |
hgdp | rs33915112 |
ensembl | rs33915112 |
geneview | rs33915112 |
scholar | rs33915112 |
rs33915112 | |
pharmgkb | rs33915112 |
gwascentral | rs33915112 |
openSNP | rs33915112 |
23andMe | rs33915112 |
SNPshot | rs33915112 |
SNPdbe | rs33915112 |
MSV3d | rs33915112 |
GWAS Ctlg | rs33915112 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33915112(C;C) rs33915112(G;G) rs33915112(T;T) |
Alt | rs33915112(C;C) rs33915112(G;G) rs33915112(T;T) |
Reference | Rs33915112(A;A) |
Significance | Other |
Disease | HEMOGLOBIN HENRI MONDOR Hb aubenas HEMOGLOBIN TRIPOLI |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN HENRI MONDOR Hb aubenas HEMOGLOBIN TRIPOLI |
Reversed | 1 |
HGVS | NC_000011.9:g.5248172T>A; NC_000011.9:g.5248172T>C; NC_000011.9:g.5248172T>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016377.3, RCV000016820.26, RCV000016881.2, |
[PMID 1001469] Hb Henri Mondor: beta26 (B8) Glu leads to Val: a variant with a substitution localized at the same position as that of HbE beta26 Glu leads to Lys.
[PMID 8811314] Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E.
[PMID 15481887] Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser].