rs33924146
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs33924146(G;G) |
Make rs33924146(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5226765 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33924146 |
dbSNP (classic) | rs33924146 |
ClinGen | rs33924146 |
ebi | rs33924146 |
HLI | rs33924146 |
Exac | rs33924146 |
Gnomad | rs33924146 |
Varsome | rs33924146 |
LitVar | rs33924146 |
Map | rs33924146 |
PheGenI | rs33924146 |
Biobank | rs33924146 |
1000 genomes | rs33924146 |
hgdp | rs33924146 |
ensembl | rs33924146 |
geneview | rs33924146 |
scholar | rs33924146 |
rs33924146 | |
pharmgkb | rs33924146 |
gwascentral | rs33924146 |
openSNP | rs33924146 |
23andMe | rs33924146 |
SNPshot | rs33924146 |
SNPdbe | rs33924146 |
MSV3d | rs33924146 |
GWAS Ctlg | rs33924146 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33924146(C;C) rs33924146(G;G) |
Alt | rs33924146(C;C) rs33924146(G;G) |
Reference | Rs33924146(T;T) |
Significance | Pathogenic |
Disease | Hemolytic anemia |
Variation | info |
Gene | HBB |
CLNDBN | Hemolytic anemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5247995A>C; NC_000011.9:g.5247995A>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016590.6, RCV000016458.6, |
[PMID 640848] Hemoglobin Louisville (beta 42 (CD1) phenylalanine replaced by leucine) occurring as a fresh mutation in a Canadian woman.
[PMID 1177282] A new case of haemoglobin Bucuresti in a Cuban family: further functional studies.
[PMID 5096522] Hemoglobin Louisville (beta-42 (CD1) phe-leu): an unstable variant causing mild hemolytic anemia.
[PMID 5133275] Haemoglobin Buccuresti 42(CD1) Phe-Leu, a cause of unstable haemoglobin haemolytic anaemia.
[PMID 2294098] Hemoglobin Warsaw (Phe beta 42(CD1)----Val), an unstable variant with decreased oxygen affinity. Characterization of its synthesis, functional properties, and structure.
[PMID 2757001] Hb Warsaw (beta 42 Phe----Val): an unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression.
[PMID 3781864] Hemoglobin Sendagi (beta 42 Phe----Val): a new unstable hemoglobin variant having an amino acid substitution at CD1 of the beta-chain.