rs33928092
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs33928092(A;A) |
Make rs33928092(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225686 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33928092 |
dbSNP (classic) | rs33928092 |
ClinGen | rs33928092 |
ebi | rs33928092 |
HLI | rs33928092 |
Exac | rs33928092 |
Gnomad | rs33928092 |
Varsome | rs33928092 |
LitVar | rs33928092 |
Map | rs33928092 |
PheGenI | rs33928092 |
Biobank | rs33928092 |
1000 genomes | rs33928092 |
hgdp | rs33928092 |
ensembl | rs33928092 |
geneview | rs33928092 |
scholar | rs33928092 |
rs33928092 | |
pharmgkb | rs33928092 |
gwascentral | rs33928092 |
openSNP | rs33928092 |
23andMe | rs33928092 |
SNPshot | rs33928092 |
SNPdbe | rs33928092 |
MSV3d | rs33928092 |
GWAS Ctlg | rs33928092 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33928092(A;A) rs33928092(C;C) rs33928092(G;G) |
Alt | rs33928092(A;A) rs33928092(C;C) rs33928092(G;G) |
Reference | Rs33928092(T;T) |
Significance | Other |
Disease | HEMOGLOBIN HARROW HEMOGLOBIN MINNEAPOLIS-LAOS |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN HARROW HEMOGLOBIN MINNEAPOLIS-LAOS |
Reversed | 1 |
HGVS | NC_000011.9:g.5246916A>C; NC_000011.9:g.5246916A>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016841.2, RCV000016490.2, |
[PMID 3667327] A second family with Hb Minneapolis-Laos or alpha 2 beta (2)118(GH1)Phe----Tyr.
[PMID 6547119] Hemoglobin Minneapolis-Laos [beta-118 (GH1) Phe----Tyr] A new hemoglobin variant with normal functional properties.
[PMID 10490141] Hb Harrow [beta118(GH1)Phe-->Cys]: a new neutral hemoglobin variant.