rs33924775
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33924775(A;A) |
Make rs33924775(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226615 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33924775 |
dbSNP (classic) | rs33924775 |
ClinGen | rs33924775 |
ebi | rs33924775 |
HLI | rs33924775 |
Exac | rs33924775 |
Gnomad | rs33924775 |
Varsome | rs33924775 |
LitVar | rs33924775 |
Map | rs33924775 |
PheGenI | rs33924775 |
Biobank | rs33924775 |
1000 genomes | rs33924775 |
hgdp | rs33924775 |
ensembl | rs33924775 |
geneview | rs33924775 |
scholar | rs33924775 |
rs33924775 | |
pharmgkb | rs33924775 |
gwascentral | rs33924775 |
openSNP | rs33924775 |
23andMe | rs33924775 |
SNPshot | rs33924775 |
SNPdbe | rs33924775 |
MSV3d | rs33924775 |
GWAS Ctlg | rs33924775 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33924775(A;A) rs33924775(G;G) rs33924775(T;T) |
Alt | rs33924775(A;A) rs33924775(G;G) rs33924775(T;T) |
Reference | Rs33924775(C;C) |
Significance | Other |
Disease | HEMOGLOBIN M (MILWAUKEE 2) HEMOGLOBIN M (HYDE PARK) HEMOGLOBIN M (AKITA) HEMOGLOBIN J (ALTGELD GARDENS) Hemoglobinopathy |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN M (MILWAUKEE 2) HEMOGLOBIN M (HYDE PARK) HEMOGLOBIN M (AKITA) HEMOGLOBIN J (ALTGELD GARDENS) Hemoglobinopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.5247845G>A; NC_000011.9:g.5247845G>C; NC_000011.9:g.5247845G>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016463.3, RCV000016464.3, RCV000016465.3, RCV000016396.2, RCV000016756.4, |
[PMID 619989] Oxidation-reduction reactions of hemoglobin A, hemoglobin M Iwate, and hemoglobin M Hyde Park.
[PMID 933112] Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations.
[PMID 4413625] Haemoglobin M Saskatoon and haemoglobin M Hyde Park in two Yugoslavian families.
[PMID 5651685] Oxygen equilibrium of hemoglobin M-Hyde Park.
[PMID 5669922] Amino acid substitution in hemoglobin Makita.
[PMID 9494043] DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita.
[PMID 721609] Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain.
[PMID 1787097] Hb Isehara (or Hb Redondo) [beta 92 (F8) His----Asn]: an unstable variant with a proximal histidine substitution at the heme contact.
[PMID 1951318] Hemoglobin Redondo [beta 92(F8) His----Asn]: an unstable hemoglobin variant associated with heme loss which occurs in two forms.