rs63750067
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(A;G) | 3 | Alpha-thalassemia allele carrier |
Make rs63750067(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173692 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750067 |
dbSNP (classic) | rs63750067 |
ClinGen | rs63750067 |
ebi | rs63750067 |
HLI | rs63750067 |
Exac | rs63750067 |
Gnomad | rs63750067 |
Varsome | rs63750067 |
LitVar | rs63750067 |
Map | rs63750067 |
PheGenI | rs63750067 |
Biobank | rs63750067 |
1000 genomes | rs63750067 |
hgdp | rs63750067 |
ensembl | rs63750067 |
geneview | rs63750067 |
scholar | rs63750067 |
rs63750067 | |
pharmgkb | rs63750067 |
gwascentral | rs63750067 |
openSNP | rs63750067 |
23andMe | rs63750067 |
SNPshot | rs63750067 |
SNPdbe | rs63750067 |
MSV3d | rs63750067 |
GWAS Ctlg | rs63750067 |
Max Magnitude | 3 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs63750067(G;G) |
Alt | rs63750067(G;G) |
Reference | Rs63750067(A;A) |
Significance | Pathogenic |
Disease | Alpha-thalassemia-2 Hemoglobin H disease |
Variation | info |
Gene | HBA2 |
CLNDBN | Alpha-thalassemia-2, nondeletional Hemoglobin H disease, nondeletional |
Reversed | 0 |
HGVS | NC_000016.9:g.223691A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016933.26, RCV000022604.4, |
[PMID 1281602] Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations.
[PMID 1581238] Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.
[PMID 7701914] Molecular characterization of alpha-thalassemia determinants, beta-thalassemia alleles, and beta S haplotypes among Kuwaiti Arabs.