rs34849179
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs34849179(A;C) |
Make rs34849179(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 177401 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34849179 |
dbSNP (classic) | rs34849179 |
ClinGen | rs34849179 |
ebi | rs34849179 |
HLI | rs34849179 |
Exac | rs34849179 |
Gnomad | rs34849179 |
Varsome | rs34849179 |
LitVar | rs34849179 |
Map | rs34849179 |
PheGenI | rs34849179 |
Biobank | rs34849179 |
1000 genomes | rs34849179 |
hgdp | rs34849179 |
ensembl | rs34849179 |
geneview | rs34849179 |
scholar | rs34849179 |
rs34849179 | |
pharmgkb | rs34849179 |
gwascentral | rs34849179 |
openSNP | rs34849179 |
23andMe | rs34849179 |
SNPshot | rs34849179 |
SNPdbe | rs34849179 |
MSV3d | rs34849179 |
GWAS Ctlg | rs34849179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34849179(C;C) |
Alt | rs34849179(C;C) |
Reference | Rs34849179(A;A) |
Significance | Other |
Disease | HEMOGLOBIN TOKONAME |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN TOKONAME |
Reversed | 0 |
HGVS | NC_000016.9:g.227400A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017168.3, |
[PMID 6188720] Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity.