rs35351128
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs35351128(A;C) |
Make rs35351128(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226624 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35351128 |
dbSNP (classic) | rs35351128 |
ClinGen | rs35351128 |
ebi | rs35351128 |
HLI | rs35351128 |
Exac | rs35351128 |
Gnomad | rs35351128 |
Varsome | rs35351128 |
LitVar | rs35351128 |
Map | rs35351128 |
PheGenI | rs35351128 |
Biobank | rs35351128 |
1000 genomes | rs35351128 |
hgdp | rs35351128 |
ensembl | rs35351128 |
geneview | rs35351128 |
scholar | rs35351128 |
rs35351128 | |
pharmgkb | rs35351128 |
gwascentral | rs35351128 |
openSNP | rs35351128 |
23andMe | rs35351128 |
SNPshot | rs35351128 |
SNPdbe | rs35351128 |
MSV3d | rs35351128 |
GWAS Ctlg | rs35351128 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35351128(C;C) |
Alt | rs35351128(C;C) |
Reference | Rs35351128(A;A) |
Significance | Other |
Disease | HEMOGLOBIN VANDERBILT |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN VANDERBILT |
Reversed | 1 |
HGVS | NC_000011.9:g.5247854T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016635.2, |
[PMID 678476] Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory erythrocytosis.