rs35140348
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs35140348(A;A) |
Make rs35140348(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226987 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35140348 |
dbSNP (classic) | rs35140348 |
ClinGen | rs35140348 |
ebi | rs35140348 |
HLI | rs35140348 |
Exac | rs35140348 |
Gnomad | rs35140348 |
Varsome | rs35140348 |
LitVar | rs35140348 |
Map | rs35140348 |
PheGenI | rs35140348 |
Biobank | rs35140348 |
1000 genomes | rs35140348 |
hgdp | rs35140348 |
ensembl | rs35140348 |
geneview | rs35140348 |
scholar | rs35140348 |
rs35140348 | |
pharmgkb | rs35140348 |
gwascentral | rs35140348 |
openSNP | rs35140348 |
23andMe | rs35140348 |
SNPshot | rs35140348 |
SNPdbe | rs35140348 |
MSV3d | rs35140348 |
GWAS Ctlg | rs35140348 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35140348(A;A) |
Alt | rs35140348(A;A) |
Reference | Rs35140348(T;T) |
Significance | Other |
Disease | HEMOGLOBIN WINDSOR |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN WINDSOR |
Reversed | 1 |
HGVS | NC_000011.9:g.5248217A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016642.2, |
[PMID 2599880] Hemoglobin Windsor or beta 11 (A8)Val----Asp: a new unstable beta-chain hemoglobin variant producing a hemolytic anemia.