rs33914470
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33914470(C;C) |
Make rs33914470(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177106 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs33914470 |
dbSNP (classic) | rs33914470 |
ClinGen | rs33914470 |
ebi | rs33914470 |
HLI | rs33914470 |
Exac | rs33914470 |
Gnomad | rs33914470 |
Varsome | rs33914470 |
LitVar | rs33914470 |
Map | rs33914470 |
PheGenI | rs33914470 |
Biobank | rs33914470 |
1000 genomes | rs33914470 |
hgdp | rs33914470 |
ensembl | rs33914470 |
geneview | rs33914470 |
scholar | rs33914470 |
rs33914470 | |
pharmgkb | rs33914470 |
gwascentral | rs33914470 |
openSNP | rs33914470 |
23andMe | rs33914470 |
SNPshot | rs33914470 |
SNPdbe | rs33914470 |
MSV3d | rs33914470 |
GWAS Ctlg | rs33914470 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33914470(C;C) rs33914470(T;T) |
Alt | rs33914470(C;C) rs33914470(T;T) |
Reference | Rs33914470(G;G) |
Significance | Other |
Disease | HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS) HEMOGLOBIN TAGAWA I |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS) HEMOGLOBIN TAGAWA I |
Reversed | 0 |
HGVS | NC_000016.9:g.227105G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016999.3, RCV000017000.3, RCV000017001.3, |
[PMID 128734] [Hemoglobin J. Broussais alpha-2 90 Lys leads to Asn beta-2A (FG2) discovered in a Martinique family. Comparison of several analytical technics].
[PMID 740406] Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families.
[PMID 4228361] [Study of an alpha J hemoglobin not previously described, in a French family].
[PMID 5452727] Hemoglobin Broussais: alpha-90 lys changed to asn.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.