rs33965000
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33965000(C;T) |
Make rs33965000(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226590 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33965000 |
dbSNP (classic) | rs33965000 |
ClinGen | rs33965000 |
ebi | rs33965000 |
HLI | rs33965000 |
Exac | rs33965000 |
Gnomad | rs33965000 |
Varsome | rs33965000 |
LitVar | rs33965000 |
Map | rs33965000 |
PheGenI | rs33965000 |
Biobank | rs33965000 |
1000 genomes | rs33965000 |
hgdp | rs33965000 |
ensembl | rs33965000 |
geneview | rs33965000 |
scholar | rs33965000 |
rs33965000 | |
pharmgkb | rs33965000 |
gwascentral | rs33965000 |
openSNP | rs33965000 |
23andMe | rs33965000 |
SNPshot | rs33965000 |
SNPdbe | rs33965000 |
MSV3d | rs33965000 |
GWAS Ctlg | rs33965000 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33965000(G;G) rs33965000(T;T) |
Alt | rs33965000(G;G) rs33965000(T;T) |
Reference | Rs33965000(C;C) |
Significance | Other |
Disease | HEMOGLOBIN BRIGHAM HEMOGLOBIN NEW MEXICO |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN BRIGHAM HEMOGLOBIN NEW MEXICO |
Reversed | 1 |
HGVS | NC_000011.9:g.5247820G>A; NC_000011.9:g.5247820G>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016271.3, RCV000016515.3, |
[PMID 4719677] Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis.
[PMID 3840697] Hemoglobin New Mexico: beta 100 (G2) Pro----Arg. A variant hemoglobin associated with erythrocytosis.