rs28933076
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs28933076(A;A) |
Make rs28933076(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234011 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs28933076 |
dbSNP (classic) | rs28933076 |
ClinGen | rs28933076 |
ebi | rs28933076 |
HLI | rs28933076 |
Exac | rs28933076 |
Gnomad | rs28933076 |
Varsome | rs28933076 |
LitVar | rs28933076 |
Map | rs28933076 |
PheGenI | rs28933076 |
Biobank | rs28933076 |
1000 genomes | rs28933076 |
hgdp | rs28933076 |
ensembl | rs28933076 |
geneview | rs28933076 |
scholar | rs28933076 |
rs28933076 | |
pharmgkb | rs28933076 |
gwascentral | rs28933076 |
openSNP | rs28933076 |
23andMe | rs28933076 |
SNPshot | rs28933076 |
SNPdbe | rs28933076 |
MSV3d | rs28933076 |
GWAS Ctlg | rs28933076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933076(A;A) |
Alt | rs28933076(A;A) |
Reference | Rs28933076(G;G) |
Significance | Other |
Disease | HEMOGLOBIN A(2) WRENS |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) WRENS |
Reversed | 1 |
HGVS | NC_000011.9:g.5255241C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016204.1, |
[PMID 2477064] Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.