rs33914359
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(AA;AA) | 0 | common in clinvar |
Make rs33914359(A;G) |
Make rs33914359(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226606 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33914359 |
dbSNP (classic) | rs33914359 |
ClinGen | rs33914359 |
ebi | rs33914359 |
HLI | rs33914359 |
Exac | rs33914359 |
Gnomad | rs33914359 |
Varsome | rs33914359 |
LitVar | rs33914359 |
Map | rs33914359 |
PheGenI | rs33914359 |
Biobank | rs33914359 |
1000 genomes | rs33914359 |
hgdp | rs33914359 |
ensembl | rs33914359 |
geneview | rs33914359 |
scholar | rs33914359 |
rs33914359 | |
pharmgkb | rs33914359 |
gwascentral | rs33914359 |
openSNP | rs33914359 |
23andMe | rs33914359 |
SNPshot | rs33914359 |
SNPdbe | rs33914359 |
MSV3d | rs33914359 |
GWAS Ctlg | rs33914359 |
Merged from | Rs121909814 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33914359(G;G) |
Alt | rs33914359(G;G) |
Reference | Rs33914359(A;A) |
Significance | Other |
Disease | HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS) HEMOGLOBIN JENKINS HEMOGLOBIN HOPKINS 1 HEMOGLOBIN KENWOOD |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS) HEMOGLOBIN JENKINS HEMOGLOBIN HOPKINS 1 HEMOGLOBIN KENWOOD |
Reversed | 1 |
HGVS | NC_000011.9:g.5247836T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016251.2, RCV000016504.2, RCV000016505.2, RCV000016506.2, RCV000016507.2, RCV000016508.2, |
[PMID 826073] A case with both hemoglobins C and N-Baltimore.
[PMID 5886928] An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore).
[PMID 5961314] Hemoglobin Jenkins or hemoglobin-N-Baltimore or alpha-2-beta-2 95Glu.
[PMID 6034218] Primary structure of Hopkins-1 haemoglobin.