rs34149886
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs34149886(A;G) |
Make rs34149886(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5232968 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34149886 |
dbSNP (classic) | rs34149886 |
ClinGen | rs34149886 |
ebi | rs34149886 |
HLI | rs34149886 |
Exac | rs34149886 |
Gnomad | rs34149886 |
Varsome | rs34149886 |
LitVar | rs34149886 |
Map | rs34149886 |
PheGenI | rs34149886 |
Biobank | rs34149886 |
1000 genomes | rs34149886 |
hgdp | rs34149886 |
ensembl | rs34149886 |
geneview | rs34149886 |
scholar | rs34149886 |
rs34149886 | |
pharmgkb | rs34149886 |
gwascentral | rs34149886 |
openSNP | rs34149886 |
23andMe | rs34149886 |
SNPshot | rs34149886 |
SNPdbe | rs34149886 |
MSV3d | rs34149886 |
GWAS Ctlg | rs34149886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34149886(G;G) rs34149886(T;T) |
Alt | rs34149886(G;G) rs34149886(T;T) |
Reference | Rs34149886(A;A) |
Significance | Other |
Disease | HEMOGLOBIN A(2) MONREALE |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) MONREALE |
Reversed | 1 |
HGVS | NC_000011.9:g.5254198T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016232.1, |
[PMID 11939506] Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.