rs33971270
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33971270(C;T) |
Make rs33971270(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5233059 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs33971270 |
dbSNP (classic) | rs33971270 |
ClinGen | rs33971270 |
ebi | rs33971270 |
HLI | rs33971270 |
Exac | rs33971270 |
Gnomad | rs33971270 |
Varsome | rs33971270 |
LitVar | rs33971270 |
Map | rs33971270 |
PheGenI | rs33971270 |
Biobank | rs33971270 |
1000 genomes | rs33971270 |
hgdp | rs33971270 |
ensembl | rs33971270 |
geneview | rs33971270 |
scholar | rs33971270 |
rs33971270 | |
pharmgkb | rs33971270 |
gwascentral | rs33971270 |
openSNP | rs33971270 |
23andMe | rs33971270 |
SNPshot | rs33971270 |
SNPdbe | rs33971270 |
MSV3d | rs33971270 |
GWAS Ctlg | rs33971270 |
Max Magnitude | 0 |
? | (C;C) (C;T) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs33971270(G;G) rs33971270(T;T) |
Alt | rs33971270(G;G) rs33971270(T;T) |
Reference | Rs33971270(C;C) |
Significance | Other |
Disease | HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS |
Reversed | 1 |
HGVS | NC_000011.9:g.5254289G>A |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016216.1, RCV000016217.1, |
[PMID 1742490] Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.