rs33929415
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs33929415(C;G) |
| Make rs33929415(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225612 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33929415 |
| dbSNP (classic) | rs33929415 |
| ClinGen | rs33929415 |
| ebi | rs33929415 |
| HLI | rs33929415 |
| Exac | rs33929415 |
| Gnomad | rs33929415 |
| Varsome | rs33929415 |
| LitVar | rs33929415 |
| Map | rs33929415 |
| PheGenI | rs33929415 |
| Biobank | rs33929415 |
| 1000 genomes | rs33929415 |
| hgdp | rs33929415 |
| ensembl | rs33929415 |
| geneview | rs33929415 |
| scholar | rs33929415 |
| rs33929415 | |
| pharmgkb | rs33929415 |
| gwascentral | rs33929415 |
| openSNP | rs33929415 |
| 23andMe | rs33929415 |
| SNPshot | rs33929415 |
| SNPdbe | rs33929415 |
| MSV3d | rs33929415 |
| GWAS Ctlg | rs33929415 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33929415(A;A) rs33929415(G;G) rs33929415(T;T) |
| Alt | rs33929415(A;A) rs33929415(G;G) rs33929415(T;T) |
| Reference | Rs33929415(C;C) |
| Significance | Other |
| Disease | not specified HEMOGLOBIN RANCHO MIRAGE |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified HEMOGLOBIN RANCHO MIRAGE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246842G>A; NC_000011.9:g.5246842G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016831.4, RCV000016765.3, |
[PMID 1634360] Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.
[PMID 9559035] Hemoglobin Old Dominion/Burton-upon-Trent, beta 143 (H21) His-->Tyr, codon 143 CAC-->TAC--a variant with altered oxygen affinity that compromises measurement of glycated hemoglobin in diabetes mellitus: structure, function, and DNA sequence.
[PMID 10870890] Two unrelated cases of Hb Old Dominion/Burton-upon-Trent [beta143(H21)His-->Tyr]: a rare variant causing spuriously elevated Hb A1c values.
