rs34314652
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34314652(C;G) |
Make rs34314652(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226795 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34314652 |
dbSNP (classic) | rs34314652 |
ClinGen | rs34314652 |
ebi | rs34314652 |
HLI | rs34314652 |
Exac | rs34314652 |
Gnomad | rs34314652 |
Varsome | rs34314652 |
LitVar | rs34314652 |
Map | rs34314652 |
PheGenI | rs34314652 |
Biobank | rs34314652 |
1000 genomes | rs34314652 |
hgdp | rs34314652 |
ensembl | rs34314652 |
geneview | rs34314652 |
scholar | rs34314652 |
rs34314652 | |
pharmgkb | rs34314652 |
gwascentral | rs34314652 |
openSNP | rs34314652 |
23andMe | rs34314652 |
SNPshot | rs34314652 |
SNPdbe | rs34314652 |
MSV3d | rs34314652 |
GWAS Ctlg | rs34314652 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34314652(G;G) |
Alt | rs34314652(G;G) |
Reference | Rs34314652(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBB |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000011.9:g.5248025G>C |
CLNSRC | |
CLNACC |
[PMID 1517102] A new variant, HB Muscat [alpha 2 beta (2)32(B14)Leu----Val] observed in association with HB S in an Arabian family.