rs63750654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs63750654(C;C) |
Make rs63750654(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5254956 |
Gene | HBG2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750654 |
dbSNP (classic) | rs63750654 |
ClinGen | rs63750654 |
ebi | rs63750654 |
HLI | rs63750654 |
Exac | rs63750654 |
Gnomad | rs63750654 |
Varsome | rs63750654 |
LitVar | rs63750654 |
Map | rs63750654 |
PheGenI | rs63750654 |
Biobank | rs63750654 |
1000 genomes | rs63750654 |
hgdp | rs63750654 |
ensembl | rs63750654 |
geneview | rs63750654 |
scholar | rs63750654 |
rs63750654 | |
pharmgkb | rs63750654 |
gwascentral | rs63750654 |
openSNP | rs63750654 |
23andMe | rs63750654 |
SNPshot | rs63750654 |
SNPdbe | rs63750654 |
MSV3d | rs63750654 |
GWAS Ctlg | rs63750654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750654(C;C) |
Alt | rs63750654(C;C) |
Reference | Rs63750654(T;T) |
Significance | Pathogenic |
Disease | Fetal hemoglobin quantitative trait locus 1 |
Variation | info |
Gene | HBG2 |
CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.5276186A>G |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016123.26, |
[PMID 1246351] Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family.