rs111033606
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033606(C;C) |
Make rs111033606(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173125 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs111033606 |
dbSNP (classic) | rs111033606 |
ClinGen | rs111033606 |
ebi | rs111033606 |
HLI | rs111033606 |
Exac | rs111033606 |
Gnomad | rs111033606 |
Varsome | rs111033606 |
LitVar | rs111033606 |
Map | rs111033606 |
PheGenI | rs111033606 |
Biobank | rs111033606 |
1000 genomes | rs111033606 |
hgdp | rs111033606 |
ensembl | rs111033606 |
geneview | rs111033606 |
scholar | rs111033606 |
rs111033606 | |
pharmgkb | rs111033606 |
gwascentral | rs111033606 |
openSNP | rs111033606 |
23andMe | rs111033606 |
SNPshot | rs111033606 |
SNPdbe | rs111033606 |
MSV3d | rs111033606 |
GWAS Ctlg | rs111033606 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033606(C;C) rs111033606(T;T) |
Alt | rs111033606(C;C) rs111033606(T;T) |
Reference | Rs111033606(G;G) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBA2 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.223124G>C; NC_000016.9:g.223124G>T |
CLNSRC | |
CLNACC |
[PMID 486536] A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2).
[PMID 1517104] HB Prato [alpha 31(B12)Arg----Ser] in a Calabrian family.
[PMID 12603094] Hb Prato [alpha31(B12)Arg --> Ser (A2)] and alpha-thalassemia in a Taiwanese.