rs35906307
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35906307(C;T) |
Make rs35906307(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5227015 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35906307 |
dbSNP (classic) | rs35906307 |
ClinGen | rs35906307 |
ebi | rs35906307 |
HLI | rs35906307 |
Exac | rs35906307 |
Gnomad | rs35906307 |
Varsome | rs35906307 |
LitVar | rs35906307 |
Map | rs35906307 |
PheGenI | rs35906307 |
Biobank | rs35906307 |
1000 genomes | rs35906307 |
hgdp | rs35906307 |
ensembl | rs35906307 |
geneview | rs35906307 |
scholar | rs35906307 |
rs35906307 | |
pharmgkb | rs35906307 |
gwascentral | rs35906307 |
openSNP | rs35906307 |
23andMe | rs35906307 |
SNPshot | rs35906307 |
SNPdbe | rs35906307 |
MSV3d | rs35906307 |
GWAS Ctlg | rs35906307 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35906307(T;T) |
Alt | rs35906307(T;T) |
Reference | Rs35906307(C;C) |
Significance | Other |
Disease | HEMOGLOBIN FUKUOKA |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN FUKUOKA |
Reversed | 1 |
HGVS | NC_000011.9:g.5248245G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016339.3, |
[PMID 2272842] Hb Fukuoka [beta 2(NA2)His----Tyr]: a new mutation at the 2,3-diphosphoglycerate binding site.