rs28933077
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | |
(T;T) | 0 | common in complete genomics |
Make rs28933077(G;G) |
Make rs28933077(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234026 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs28933077 |
dbSNP (classic) | rs28933077 |
ClinGen | rs28933077 |
ebi | rs28933077 |
HLI | rs28933077 |
Exac | rs28933077 |
Gnomad | rs28933077 |
Varsome | rs28933077 |
LitVar | rs28933077 |
Map | rs28933077 |
PheGenI | rs28933077 |
Biobank | rs28933077 |
1000 genomes | rs28933077 |
hgdp | rs28933077 |
ensembl | rs28933077 |
geneview | rs28933077 |
scholar | rs28933077 |
rs28933077 | |
pharmgkb | rs28933077 |
gwascentral | rs28933077 |
openSNP | rs28933077 |
23andMe | rs28933077 |
SNPshot | rs28933077 |
SNPdbe | rs28933077 |
MSV3d | rs28933077 |
GWAS Ctlg | rs28933077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933077(G;G) |
Alt | rs28933077(G;G) |
Reference | Rs28933077(T;T) |
Significance | Other |
Disease | HEMOGLOBIN A(2) SANT' ANTIOCO |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) SANT' ANTIOCO |
Reversed | 1 |
HGVS | NC_000011.9:g.5255256A>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016230.1, |
[PMID 7713748] Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA.