rs63751457
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Alpha-thalassemia allele carrier |
Make rs63751457(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 172981 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs63751457 |
dbSNP (classic) | rs63751457 |
ClinGen | rs63751457 |
ebi | rs63751457 |
HLI | rs63751457 |
Exac | rs63751457 |
Gnomad | rs63751457 |
Varsome | rs63751457 |
LitVar | rs63751457 |
Map | rs63751457 |
PheGenI | rs63751457 |
Biobank | rs63751457 |
1000 genomes | rs63751457 |
hgdp | rs63751457 |
ensembl | rs63751457 |
geneview | rs63751457 |
scholar | rs63751457 |
rs63751457 | |
pharmgkb | rs63751457 |
gwascentral | rs63751457 |
openSNP | rs63751457 |
23andMe | rs63751457 |
SNPshot | rs63751457 |
SNPdbe | rs63751457 |
MSV3d | rs63751457 |
GWAS Ctlg | rs63751457 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs63751457(T;T) |
Alt | rs63751457(T;T) |
Reference | Rs63751457(C;C) |
Significance | Pathogenic |
Disease | Alpha plus thalassemia |
Variation | info |
Gene | HBA2 |
CLNDBN | Alpha plus thalassemia |
Reversed | 0 |
HGVS | NC_000016.9:g.222980C>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016977.26, |