rs33924825
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33924825(C;C) |
Make rs33924825(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5249786 |
Gene | HBG1 |
is a | snp |
is | mentioned by |
dbSNP | rs33924825 |
dbSNP (classic) | rs33924825 |
ClinGen | rs33924825 |
ebi | rs33924825 |
HLI | rs33924825 |
Exac | rs33924825 |
Gnomad | rs33924825 |
Varsome | rs33924825 |
LitVar | rs33924825 |
Map | rs33924825 |
PheGenI | rs33924825 |
Biobank | rs33924825 |
1000 genomes | rs33924825 |
hgdp | rs33924825 |
ensembl | rs33924825 |
geneview | rs33924825 |
scholar | rs33924825 |
rs33924825 | |
pharmgkb | rs33924825 |
gwascentral | rs33924825 |
openSNP | rs33924825 |
23andMe | rs33924825 |
SNPshot | rs33924825 |
SNPdbe | rs33924825 |
MSV3d | rs33924825 |
GWAS Ctlg | rs33924825 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33924825(A;A) rs33924825(C;C) |
Alt | rs33924825(A;A) rs33924825(C;C) |
Reference | Rs33924825(G;G) |
Significance | Other |
Disease | HEMOGLOBIN F (PORDENONE) |
Variation | info |
Gene | HBG1 |
CLNDBN | HEMOGLOBIN F (PORDENONE) |
Reversed | 1 |
HGVS | NC_000011.9:g.5271016C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016161.1, |
[PMID 6183236] A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced by Gln: 75ILE: 136ALA].
[PMID 5635604] Haemoglobin F Texas II (alpha-2 gamma-2, 6 Glu-Lys), the second of the haemogloin F Texas variants.