rs33936967
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs33936967(G;G) |
Make rs33936967(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226647 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33936967 |
dbSNP (classic) | rs33936967 |
ClinGen | rs33936967 |
ebi | rs33936967 |
HLI | rs33936967 |
Exac | rs33936967 |
Gnomad | rs33936967 |
Varsome | rs33936967 |
LitVar | rs33936967 |
Map | rs33936967 |
PheGenI | rs33936967 |
Biobank | rs33936967 |
1000 genomes | rs33936967 |
hgdp | rs33936967 |
ensembl | rs33936967 |
geneview | rs33936967 |
scholar | rs33936967 |
rs33936967 | |
pharmgkb | rs33936967 |
gwascentral | rs33936967 |
openSNP | rs33936967 |
23andMe | rs33936967 |
SNPshot | rs33936967 |
SNPdbe | rs33936967 |
MSV3d | rs33936967 |
GWAS Ctlg | rs33936967 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33936967(A;A) rs33936967(G;G) |
Alt | rs33936967(A;A) rs33936967(G;G) |
Reference | Rs33936967(T;T) |
Significance | Other |
Disease | HEMOGLOBIN BAYLOR HEMOGLOBIN LA ROCHE-SUR-YON |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN BAYLOR HEMOGLOBIN LA ROCHE-SUR-YON |
Reversed | 1 |
HGVS | NC_000011.9:g.5247877A>C; NC_000011.9:g.5247877A>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016259.3, RCV000016837.2, |
[PMID 1540659] Structure of the EF corner favors deamidation of asparaginyl residues in hemoglobin: the example of Hb La Roche-sur-Yon [beta 81 (EF5) Leu----His].