rs33911434
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33911434(C;C) |
Make rs33911434(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226578 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33911434 |
dbSNP (classic) | rs33911434 |
ClinGen | rs33911434 |
ebi | rs33911434 |
HLI | rs33911434 |
Exac | rs33911434 |
Gnomad | rs33911434 |
Varsome | rs33911434 |
LitVar | rs33911434 |
Map | rs33911434 |
PheGenI | rs33911434 |
Biobank | rs33911434 |
1000 genomes | rs33911434 |
hgdp | rs33911434 |
ensembl | rs33911434 |
geneview | rs33911434 |
scholar | rs33911434 |
rs33911434 | |
pharmgkb | rs33911434 |
gwascentral | rs33911434 |
openSNP | rs33911434 |
23andMe | rs33911434 |
SNPshot | rs33911434 |
SNPdbe | rs33911434 |
MSV3d | rs33911434 |
GWAS Ctlg | rs33911434 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33911434(A;A) rs33911434(C;C) rs33911434(T;T) |
Alt | rs33911434(A;A) rs33911434(C;C) rs33911434(T;T) |
Reference | Rs33911434(G;G) |
Significance | Other |
Disease | HEMOGLOBIN SHERWOOD FOREST |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN SHERWOOD FOREST |
Reversed | 1 |
HGVS | NC_000011.9:g.5247808C>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016597.2, |
[PMID 590504] Haemoglobin Sherwood Forest beta104 (G6) Arg replaced by Thr.
[PMID 8829478] Structural determination of a new electrophoreticaly silent variant: hemoglobin Alzette, beta 104(G6)Arg --> Lys.