rs63751471
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTCCCCGCCGAG) | 3 | Alpha-thalassemia allele carrier |
(CTCCCCGCCGAG;CTCCCCGCCGAG) | 0 | common/normal |
Make rs63751471(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 173511 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs63751471 |
dbSNP (classic) | rs63751471 |
ClinGen | rs63751471 |
ebi | rs63751471 |
HLI | rs63751471 |
Exac | rs63751471 |
Gnomad | rs63751471 |
Varsome | rs63751471 |
LitVar | rs63751471 |
Map | rs63751471 |
PheGenI | rs63751471 |
Biobank | rs63751471 |
1000 genomes | rs63751471 |
hgdp | rs63751471 |
ensembl | rs63751471 |
geneview | rs63751471 |
scholar | rs63751471 |
rs63751471 | |
pharmgkb | rs63751471 |
gwascentral | rs63751471 |
openSNP | rs63751471 |
23andMe | rs63751471 |
SNPshot | rs63751471 |
SNPdbe | rs63751471 |
MSV3d | rs63751471 |
GWAS Ctlg | rs63751471 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs63751471(-;-) |
Alt | rs63751471(-;-) |
Reference | Rs63751471(CTCCCCGCCGAG;CTCCCCGCCGAG) |
Significance | Pathogenic |
Disease | Alpha Thalassemia |
Variation | info |
Gene | HBA2 |
CLNDBN | alpha Thalassemia |
Reversed | 0 |
HGVS | NC_000016.9:g.223510_223521delCTCCCCGCCGAG |
CLNSRC | |
CLNACC | RCV000417222.1, |