rs35790721
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs35790721(A;T) |
Make rs35790721(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5233043 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35790721 |
dbSNP (classic) | rs35790721 |
ClinGen | rs35790721 |
ebi | rs35790721 |
HLI | rs35790721 |
Exac | rs35790721 |
Gnomad | rs35790721 |
Varsome | rs35790721 |
LitVar | rs35790721 |
Map | rs35790721 |
PheGenI | rs35790721 |
Biobank | rs35790721 |
1000 genomes | rs35790721 |
hgdp | rs35790721 |
ensembl | rs35790721 |
geneview | rs35790721 |
scholar | rs35790721 |
rs35790721 | |
pharmgkb | rs35790721 |
gwascentral | rs35790721 |
openSNP | rs35790721 |
23andMe | rs35790721 |
SNPshot | rs35790721 |
SNPdbe | rs35790721 |
MSV3d | rs35790721 |
GWAS Ctlg | rs35790721 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35790721(T;T) |
Alt | rs35790721(T;T) |
Reference | Rs35790721(A;A) |
Significance | Other |
Disease | HEMOGLOBIN A(2) MANZANARES |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) MANZANARES |
Reversed | 1 |
HGVS | NC_000011.9:g.5254273T>A |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016197.1, |
[PMID 6629825] Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.