rs35329985
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35329985(A;A) |
Make rs35329985(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234008 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35329985 |
dbSNP (classic) | rs35329985 |
ClinGen | rs35329985 |
ebi | rs35329985 |
HLI | rs35329985 |
Exac | rs35329985 |
Gnomad | rs35329985 |
Varsome | rs35329985 |
LitVar | rs35329985 |
Map | rs35329985 |
PheGenI | rs35329985 |
Biobank | rs35329985 |
1000 genomes | rs35329985 |
hgdp | rs35329985 |
ensembl | rs35329985 |
geneview | rs35329985 |
scholar | rs35329985 |
rs35329985 | |
pharmgkb | rs35329985 |
gwascentral | rs35329985 |
openSNP | rs35329985 |
23andMe | rs35329985 |
SNPshot | rs35329985 |
SNPdbe | rs35329985 |
MSV3d | rs35329985 |
GWAS Ctlg | rs35329985 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs35329985(A;A) |
Alt | rs35329985(A;A) |
Reference | Rs35329985(G;G) |
Significance | Other |
Disease | HEMOGLOBIN A(2) CANADA |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) CANADA |
Reversed | 1 |
HGVS | NC_000011.9:g.5255238C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016190.1, |
[PMID 7129931] Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.