rs34017450
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs34017450(A;C) |
Make rs34017450(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5254474 |
Gene | HBG2 |
is a | snp |
is | mentioned by |
dbSNP | rs34017450 |
dbSNP (classic) | rs34017450 |
ClinGen | rs34017450 |
ebi | rs34017450 |
HLI | rs34017450 |
Exac | rs34017450 |
Gnomad | rs34017450 |
Varsome | rs34017450 |
LitVar | rs34017450 |
Map | rs34017450 |
PheGenI | rs34017450 |
Biobank | rs34017450 |
1000 genomes | rs34017450 |
hgdp | rs34017450 |
ensembl | rs34017450 |
geneview | rs34017450 |
scholar | rs34017450 |
rs34017450 | |
pharmgkb | rs34017450 |
gwascentral | rs34017450 |
openSNP | rs34017450 |
23andMe | rs34017450 |
SNPshot | rs34017450 |
SNPdbe | rs34017450 |
MSV3d | rs34017450 |
GWAS Ctlg | rs34017450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34017450(C;C) |
Alt | rs34017450(C;C) |
Reference | Rs34017450(A;A) |
Significance | Other |
Disease | HEMOGLOBIN F (LODZ) |
Variation | info |
Gene | HBG2 |
CLNDBN | HEMOGLOBIN F (LODZ) |
Reversed | 1 |
HGVS | NC_000011.9:g.5275704T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016108.1, |
[PMID 1726098] A second observation of Hb F-Lodz or alpha 2G gamma (2)44(CD3)Ser----Arg.
[PMID 6814491] Hemoglobin F Lodz (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent.