rs33978082
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs33978082(A;A) |
Make rs33978082(A;T) |
Make rs33978082(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225692 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33978082 |
dbSNP (classic) | rs33978082 |
ClinGen | rs33978082 |
ebi | rs33978082 |
HLI | rs33978082 |
Exac | rs33978082 |
Gnomad | rs33978082 |
Varsome | rs33978082 |
LitVar | rs33978082 |
Map | rs33978082 |
PheGenI | rs33978082 |
Biobank | rs33978082 |
1000 genomes | rs33978082 |
hgdp | rs33978082 |
ensembl | rs33978082 |
geneview | rs33978082 |
scholar | rs33978082 |
rs33978082 | |
pharmgkb | rs33978082 |
gwascentral | rs33978082 |
openSNP | rs33978082 |
23andMe | rs33978082 |
SNPshot | rs33978082 |
SNPdbe | rs33978082 |
MSV3d | rs33978082 |
GWAS Ctlg | rs33978082 |
Merged from | Rs111033582 |
Max Magnitude | 0 |
[PMID 12908805] Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu].
ClinVar | |
---|---|
Risk | rs33978082(C;C) rs33978082(G;G) rs33978082(T;T) |
Alt | rs33978082(C;C) rs33978082(G;G) rs33978082(T;T) |
Reference | rs33978082(A;A) |
Significance | Other |
Disease | HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HEMOGLOBIN SAITAMA |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HEMOGLOBIN SAITAMA |
Reversed | 1 |
HGVS | NC_000011.9:g.5246922T>C; NC_000011.9:g.5246922T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016538.3, RCV000016539.3, RCV000016583.2, |