rs33920173
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs33920173(G;G) |
Make rs33920173(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226797 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33920173 |
dbSNP (classic) | rs33920173 |
ClinGen | rs33920173 |
ebi | rs33920173 |
HLI | rs33920173 |
Exac | rs33920173 |
Gnomad | rs33920173 |
Varsome | rs33920173 |
LitVar | rs33920173 |
Map | rs33920173 |
PheGenI | rs33920173 |
Biobank | rs33920173 |
1000 genomes | rs33920173 |
hgdp | rs33920173 |
ensembl | rs33920173 |
geneview | rs33920173 |
scholar | rs33920173 |
rs33920173 | |
pharmgkb | rs33920173 |
gwascentral | rs33920173 |
openSNP | rs33920173 |
23andMe | rs33920173 |
SNPshot | rs33920173 |
SNPdbe | rs33920173 |
MSV3d | rs33920173 |
GWAS Ctlg | rs33920173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33920173(C;C) rs33920173(G;G) |
Alt | rs33920173(C;C) rs33920173(G;G) |
Reference | Rs33920173(T;T) |
Significance | Other |
Disease | HEMOGLOBIN YOKOHAMA |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN YOKOHAMA |
Reversed | 1 |
HGVS | NC_000011.9:g.5248027A>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016647.3, |
[PMID 1814855] Hb Yokohama [beta 31 (B13)Leu----Pro] detected as a de novo mutation in a Yugoslavian boy.
[PMID 7338469] A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting for Pro, causing hemolytic anemia.
[PMID 7558872] Hb Hakkari or alpha 2 beta 2 31(B13)Leu-->Arg, a severely unstable hemoglobin variant associated with numerous intra-erythroblastic inclusions and erythroid hyperplasia of the bone marrow.