rs33950542
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs33950542(C;C) |
Make rs33950542(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226665 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33950542 |
dbSNP (classic) | rs33950542 |
ClinGen | rs33950542 |
ebi | rs33950542 |
HLI | rs33950542 |
Exac | rs33950542 |
Gnomad | rs33950542 |
Varsome | rs33950542 |
LitVar | rs33950542 |
Map | rs33950542 |
PheGenI | rs33950542 |
Biobank | rs33950542 |
1000 genomes | rs33950542 |
hgdp | rs33950542 |
ensembl | rs33950542 |
geneview | rs33950542 |
scholar | rs33950542 |
rs33950542 | |
pharmgkb | rs33950542 |
gwascentral | rs33950542 |
openSNP | rs33950542 |
23andMe | rs33950542 |
SNPshot | rs33950542 |
SNPdbe | rs33950542 |
MSV3d | rs33950542 |
GWAS Ctlg | rs33950542 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33950542(C;C) rs33950542(G;G) |
Alt | rs33950542(C;C) rs33950542(G;G) |
Reference | Rs33950542(T;T) |
Significance | Other |
Disease | HEMOGLOBIN PASADENA HEMOGLOBIN ATLANTA HEMOGLOBIN ATLANTA-COVENTRY |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN PASADENA HEMOGLOBIN ATLANTA HEMOGLOBIN ATLANTA-COVENTRY |
Reversed | 1 |
HGVS | NC_000011.9:g.5247895A>C; NC_000011.9:g.5247895A>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016545.3, RCV000016254.2, RCV000016255.2, |
[PMID 1138885] Hemoglobin Atlanta or alpha 2 beta 2 75 Leu-Pro (E19): an unstable variant found in several members of a Caucasian family.
[PMID 3710819] Two de novo mutations in one beta globin chain: hemoglobin Atlanta-Coventry, beta 75 Leu----Pro and beta 141 Leu deleted.
[PMID 6618886] Two unstable hemoglobins in one individual: Hb Atlanta (beta 75 Leu leads to Pro) and Hb Coventry (beta 141 Leu deleted).
[PMID 8454467] Posttranslational modification of beta 141 Leu associated with the beta 75(E19)Leu-->Pro mutation in Hb Atlanta.
[PMID 7397219] Hemoglobin Pasadena,alpha 2 beta 275(E19)Leu leads to Arg. Identification by high performance liquid chromatography of a new unstable variant with increased oxygen affinity.