rs34446260
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34446260(C;C) |
Make rs34446260(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226706 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34446260 |
dbSNP (classic) | rs34446260 |
ClinGen | rs34446260 |
ebi | rs34446260 |
HLI | rs34446260 |
Exac | rs34446260 |
Gnomad | rs34446260 |
Varsome | rs34446260 |
LitVar | rs34446260 |
Map | rs34446260 |
PheGenI | rs34446260 |
Biobank | rs34446260 |
1000 genomes | rs34446260 |
hgdp | rs34446260 |
ensembl | rs34446260 |
geneview | rs34446260 |
scholar | rs34446260 |
rs34446260 | |
pharmgkb | rs34446260 |
gwascentral | rs34446260 |
openSNP | rs34446260 |
23andMe | rs34446260 |
SNPshot | rs34446260 |
SNPdbe | rs34446260 |
MSV3d | rs34446260 |
GWAS Ctlg | rs34446260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34446260(C;C) rs34446260(T;T) |
Alt | rs34446260(C;C) rs34446260(T;T) |
Reference | Rs34446260(G;G) |
Significance | Other |
Disease | HEMOGLOBIN HIKARI |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN HIKARI |
Reversed | 1 |
HGVS | NC_000011.9:g.5247936C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016379.4, |
[PMID 6792159] A further example of hemoglobin Hikari (beta 61[E5] Lys replaced by Asn).