rs33918778
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(GT;GT) | 0 | common in clinvar |
Make rs33918778(G;T) |
Make rs33918778(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226769 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33918778 |
dbSNP (classic) | rs33918778 |
ClinGen | rs33918778 |
ebi | rs33918778 |
HLI | rs33918778 |
Exac | rs33918778 |
Gnomad | rs33918778 |
Varsome | rs33918778 |
LitVar | rs33918778 |
Map | rs33918778 |
PheGenI | rs33918778 |
Biobank | rs33918778 |
1000 genomes | rs33918778 |
hgdp | rs33918778 |
ensembl | rs33918778 |
geneview | rs33918778 |
scholar | rs33918778 |
rs33918778 | |
pharmgkb | rs33918778 |
gwascentral | rs33918778 |
openSNP | rs33918778 |
23andMe | rs33918778 |
SNPshot | rs33918778 |
SNPdbe | rs33918778 |
MSV3d | rs33918778 |
GWAS Ctlg | rs33918778 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33918778(C;C) rs33918778(T;T) |
Alt | rs33918778(C;C) rs33918778(T;T) |
Reference | Rs33918778(G;G) |
Significance | Other |
Disease | HEMOGLOBIN AUSTIN |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN AUSTIN |
Reversed | 1 |
HGVS | NC_000011.9:g.5247999C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016256.3, |
[PMID 14597] Hemoglobins Austin and Waco: two hemoglobins with substitutions in the alpha 1 beta 2 contact region.