rs34240441
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34240441(C;C) |
Make rs34240441(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225622 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34240441 |
dbSNP (classic) | rs34240441 |
ClinGen | rs34240441 |
ebi | rs34240441 |
HLI | rs34240441 |
Exac | rs34240441 |
Gnomad | rs34240441 |
Varsome | rs34240441 |
LitVar | rs34240441 |
Map | rs34240441 |
PheGenI | rs34240441 |
Biobank | rs34240441 |
1000 genomes | rs34240441 |
hgdp | rs34240441 |
ensembl | rs34240441 |
geneview | rs34240441 |
scholar | rs34240441 |
rs34240441 | |
pharmgkb | rs34240441 |
gwascentral | rs34240441 |
openSNP | rs34240441 |
23andMe | rs34240441 |
SNPshot | rs34240441 |
SNPdbe | rs34240441 |
MSV3d | rs34240441 |
GWAS Ctlg | rs34240441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34240441(A;A) rs34240441(C;C) |
Alt | rs34240441(A;A) rs34240441(C;C) |
Reference | Rs34240441(T;T) |
Significance | Other |
Disease | HEMOGLOBIN HINSDALE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN HINSDALE |
Reversed | 1 |
HGVS | NC_000011.9:g.5246852A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016381.3, |
[PMID 2513289] Hb Hinsdale [beta 139 (H17)Asn----Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate.
[PMID 8006968] Chloride masks effects of opposing positive charges in Hb A and Hb Hinsdale (beta 139 Asn-->Lys) that can modulate cooperativity as well as oxygen affinity.