rs28928886
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs28928886(C;C) |
Make rs28928886(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176956 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs28928886 |
dbSNP (classic) | rs28928886 |
ClinGen | rs28928886 |
ebi | rs28928886 |
HLI | rs28928886 |
Exac | rs28928886 |
Gnomad | rs28928886 |
Varsome | rs28928886 |
LitVar | rs28928886 |
Map | rs28928886 |
PheGenI | rs28928886 |
Biobank | rs28928886 |
1000 genomes | rs28928886 |
hgdp | rs28928886 |
ensembl | rs28928886 |
geneview | rs28928886 |
scholar | rs28928886 |
rs28928886 | |
pharmgkb | rs28928886 |
gwascentral | rs28928886 |
openSNP | rs28928886 |
23andMe | rs28928886 |
SNPshot | rs28928886 |
SNPdbe | rs28928886 |
MSV3d | rs28928886 |
GWAS Ctlg | rs28928886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28928886(C;C) |
Alt | rs28928886(C;C) |
Reference | Rs28928886(G;G) |
Significance | Other |
Disease | HEMOGLOBIN SARATOGA SPRINGS |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN SARATOGA SPRINGS |
Reversed | 0 |
HGVS | NC_000016.9:g.226955G>C |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000017228.2, |
[PMID 14649314] Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val].