rs34956202
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34956202(A;A) |
Make rs34956202(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 172959 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs34956202 |
dbSNP (classic) | rs34956202 |
ClinGen | rs34956202 |
ebi | rs34956202 |
HLI | rs34956202 |
Exac | rs34956202 |
Gnomad | rs34956202 |
Varsome | rs34956202 |
LitVar | rs34956202 |
Map | rs34956202 |
PheGenI | rs34956202 |
Biobank | rs34956202 |
1000 genomes | rs34956202 |
hgdp | rs34956202 |
ensembl | rs34956202 |
geneview | rs34956202 |
scholar | rs34956202 |
rs34956202 | |
pharmgkb | rs34956202 |
gwascentral | rs34956202 |
openSNP | rs34956202 |
23andMe | rs34956202 |
SNPshot | rs34956202 |
SNPdbe | rs34956202 |
MSV3d | rs34956202 |
GWAS Ctlg | rs34956202 |
Merged from | Rs111033600 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34956202(A;A) |
Alt | rs34956202(A;A) |
Reference | Rs34956202(G;G) |
Significance | Other |
Disease | HEMOGLOBIN J (OXFORD) HEMOGLOBIN I (INTERLAKEN) HEMOGLOBIN N (COSENZA) |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN J (OXFORD) HEMOGLOBIN I (INTERLAKEN) HEMOGLOBIN N (COSENZA) |
Reversed | 0 |
HGVS | NC_000016.9:g.222958G>A |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016902.2, RCV000016903.2, RCV000016904.2, |
[PMID 10024] A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia.
[PMID 2666359] Association of Hb S [beta 6(A3)Glu----Val] and Hb I-interlaken [alpha 15(A13)Gly----Asp] in a Sicilian man; review of the occurrence of Hb I-interlaken in Sicily.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.