rs34536353
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34536353(A;A) |
Make rs34536353(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5233058 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34536353 |
dbSNP (classic) | rs34536353 |
ClinGen | rs34536353 |
ebi | rs34536353 |
HLI | rs34536353 |
Exac | rs34536353 |
Gnomad | rs34536353 |
Varsome | rs34536353 |
LitVar | rs34536353 |
Map | rs34536353 |
PheGenI | rs34536353 |
Biobank | rs34536353 |
1000 genomes | rs34536353 |
hgdp | rs34536353 |
ensembl | rs34536353 |
geneview | rs34536353 |
scholar | rs34536353 |
rs34536353 | |
pharmgkb | rs34536353 |
gwascentral | rs34536353 |
openSNP | rs34536353 |
23andMe | rs34536353 |
SNPshot | rs34536353 |
SNPdbe | rs34536353 |
MSV3d | rs34536353 |
GWAS Ctlg | rs34536353 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34536353(A;A) |
Alt | rs34536353(A;A) |
Reference | Rs34536353(G;G) |
Significance | Other |
Disease | HEMOGLOBIN A(2) COBURG |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) COBURG |
Reversed | 1 |
HGVS | NC_000011.9:g.5254288C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016191.1, |
[PMID 1148221] Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).