rs33935328
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33935328(G;T) |
Make rs33935328(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 177407 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs33935328 |
dbSNP (classic) | rs33935328 |
ClinGen | rs33935328 |
ebi | rs33935328 |
HLI | rs33935328 |
Exac | rs33935328 |
Gnomad | rs33935328 |
Varsome | rs33935328 |
LitVar | rs33935328 |
Map | rs33935328 |
PheGenI | rs33935328 |
Biobank | rs33935328 |
1000 genomes | rs33935328 |
hgdp | rs33935328 |
ensembl | rs33935328 |
geneview | rs33935328 |
scholar | rs33935328 |
rs33935328 | |
pharmgkb | rs33935328 |
gwascentral | rs33935328 |
openSNP | rs33935328 |
23andMe | rs33935328 |
SNPshot | rs33935328 |
SNPdbe | rs33935328 |
MSV3d | rs33935328 |
GWAS Ctlg | rs33935328 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33935328(A;A) rs33935328(C;C) rs33935328(T;T) |
Alt | rs33935328(A;A) rs33935328(C;C) rs33935328(T;T) |
Reference | Rs33935328(G;G) |
Significance | Other |
Disease | HEMOGLOBIN SURESNES HEMOGLOBIN SINGAPORE HEMOGLOBIN LEGNANO |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN SURESNES HEMOGLOBIN SINGAPORE HEMOGLOBIN LEGNANO |
Reversed | 0 |
HGVS | NC_000016.9:g.227406G>A; NC_000016.9:g.227406G>C; NC_000016.9:g.227406G>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017164.2, RCV000017157.2, RCV000017093.2, |
[PMID 5782115] Two new haemoglobin variants involving proline substitutions.
[PMID 11123] Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant.
[PMID 640857] Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family.
[PMID 7410435] Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site.
[PMID 701083] Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity.