rs34743106
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34743106(C;C) |
Make rs34743106(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176789 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34743106 |
dbSNP (classic) | rs34743106 |
ClinGen | rs34743106 |
ebi | rs34743106 |
HLI | rs34743106 |
Exac | rs34743106 |
Gnomad | rs34743106 |
Varsome | rs34743106 |
LitVar | rs34743106 |
Map | rs34743106 |
PheGenI | rs34743106 |
Biobank | rs34743106 |
1000 genomes | rs34743106 |
hgdp | rs34743106 |
ensembl | rs34743106 |
geneview | rs34743106 |
scholar | rs34743106 |
rs34743106 | |
pharmgkb | rs34743106 |
gwascentral | rs34743106 |
openSNP | rs34743106 |
23andMe | rs34743106 |
SNPshot | rs34743106 |
SNPdbe | rs34743106 |
MSV3d | rs34743106 |
GWAS Ctlg | rs34743106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34743106(C;C) |
Alt | rs34743106(C;C) |
Reference | Rs34743106(T;T) |
Significance | Other |
Disease | HEMOGLOBIN LUXEMBOURG |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN LUXEMBOURG |
Reversed | 0 |
HGVS | NC_000016.9:g.226788T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017097.2, |
[PMID 1917540] Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].
[PMID 2599879] Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant.