rs34751764
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34751764(C;C) |
Make rs34751764(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176732 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34751764 |
dbSNP (classic) | rs34751764 |
ClinGen | rs34751764 |
ebi | rs34751764 |
HLI | rs34751764 |
Exac | rs34751764 |
Gnomad | rs34751764 |
Varsome | rs34751764 |
LitVar | rs34751764 |
Map | rs34751764 |
PheGenI | rs34751764 |
Biobank | rs34751764 |
1000 genomes | rs34751764 |
hgdp | rs34751764 |
ensembl | rs34751764 |
geneview | rs34751764 |
scholar | rs34751764 |
rs34751764 | |
pharmgkb | rs34751764 |
gwascentral | rs34751764 |
openSNP | rs34751764 |
23andMe | rs34751764 |
SNPshot | rs34751764 |
SNPdbe | rs34751764 |
MSV3d | rs34751764 |
GWAS Ctlg | rs34751764 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34751764(C;C) |
Alt | rs34751764(C;C) |
Reference | Rs34751764(G;G) |
Significance | Other |
Disease | HEMOGLOBIN KARACHI |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN KARACHI |
Reversed | 0 |
HGVS | NC_000016.9:g.226731G>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017078.2, |
[PMID 3097343] Abnormal hemoglobins 11-Hb (Karachi), an alpha chain abnormality at position 5 Ala----Pro.