rs35654345
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs35654345(G;G) |
Make rs35654345(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177323 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35654345 |
dbSNP (classic) | rs35654345 |
ClinGen | rs35654345 |
ebi | rs35654345 |
HLI | rs35654345 |
Exac | rs35654345 |
Gnomad | rs35654345 |
Varsome | rs35654345 |
LitVar | rs35654345 |
Map | rs35654345 |
PheGenI | rs35654345 |
Biobank | rs35654345 |
1000 genomes | rs35654345 |
hgdp | rs35654345 |
ensembl | rs35654345 |
geneview | rs35654345 |
scholar | rs35654345 |
rs35654345 | |
pharmgkb | rs35654345 |
gwascentral | rs35654345 |
openSNP | rs35654345 |
23andMe | rs35654345 |
SNPshot | rs35654345 |
SNPdbe | rs35654345 |
MSV3d | rs35654345 |
GWAS Ctlg | rs35654345 |
Merged from | Rs63751116 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35654345(A;A) |
Alt | rs35654345(A;A) |
Reference | Rs35654345(T;T) |
Significance | Other |
Disease | HEMOGLOBIN TWIN PEAKS |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN TWIN PEAKS |
Reversed | 0 |
HGVS | NC_000016.9:g.227322T>A |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017173.2, |
[PMID 3839772] Hemoglobin Twin Peaks alpha 113 (GH1) Leu----His.
[PMID 11259442] A role for the alpha 113 (GH1) amino acid residue in the polymerization of sickle hemoglobin. Evaluation of its inhibitory strength and interaction linkage with two fiber contact sites (alpha 16/23) located in the AB region of the alpha-chain.