rs34814612
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34814612(C;G) |
Make rs34814612(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177118 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34814612 |
dbSNP (classic) | rs34814612 |
ClinGen | rs34814612 |
ebi | rs34814612 |
HLI | rs34814612 |
Exac | rs34814612 |
Gnomad | rs34814612 |
Varsome | rs34814612 |
LitVar | rs34814612 |
Map | rs34814612 |
PheGenI | rs34814612 |
Biobank | rs34814612 |
1000 genomes | rs34814612 |
hgdp | rs34814612 |
ensembl | rs34814612 |
geneview | rs34814612 |
scholar | rs34814612 |
rs34814612 | |
pharmgkb | rs34814612 |
gwascentral | rs34814612 |
openSNP | rs34814612 |
23andMe | rs34814612 |
SNPshot | rs34814612 |
SNPdbe | rs34814612 |
MSV3d | rs34814612 |
GWAS Ctlg | rs34814612 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34814612(G;G) |
Alt | rs34814612(G;G) |
Reference | Rs34814612(C;C) |
Significance | Other |
Disease | HEMOGLOBIN ROANNE |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN ROANNE |
Reversed | 0 |
HGVS | NC_000016.9:g.227117C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017209.2, |
[PMID 7811728] Hemoglobin Roanne [alpha 94(G1) Asp-->Glu]: a variant of the alpha 1 beta 2 interface with an unexpected high oxygen affinity.