rs34389944
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34389944(A;A) |
Make rs34389944(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234357 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34389944 |
dbSNP (classic) | rs34389944 |
ClinGen | rs34389944 |
ebi | rs34389944 |
HLI | rs34389944 |
Exac | rs34389944 |
Gnomad | rs34389944 |
Varsome | rs34389944 |
LitVar | rs34389944 |
Map | rs34389944 |
PheGenI | rs34389944 |
Biobank | rs34389944 |
1000 genomes | rs34389944 |
hgdp | rs34389944 |
ensembl | rs34389944 |
geneview | rs34389944 |
scholar | rs34389944 |
rs34389944 | |
pharmgkb | rs34389944 |
gwascentral | rs34389944 |
openSNP | rs34389944 |
23andMe | rs34389944 |
SNPshot | rs34389944 |
SNPdbe | rs34389944 |
MSV3d | rs34389944 |
GWAS Ctlg | rs34389944 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34389944(A;A) |
Alt | rs34389944(A;A) |
Reference | Rs34389944(G;G) |
Significance | Other |
Disease | HEMOGLOBIN A(2) YOKOSHIMA |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) YOKOSHIMA |
Reversed | 1 |
HGVS | NC_000011.9:g.5255587C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016205.1, |
[PMID 3841531] Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family.