rs34586189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34586189(A;A) |
Make rs34586189(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177071 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34586189 |
dbSNP (classic) | rs34586189 |
ClinGen | rs34586189 |
ebi | rs34586189 |
HLI | rs34586189 |
Exac | rs34586189 |
Gnomad | rs34586189 |
Varsome | rs34586189 |
LitVar | rs34586189 |
Map | rs34586189 |
PheGenI | rs34586189 |
Biobank | rs34586189 |
1000 genomes | rs34586189 |
hgdp | rs34586189 |
ensembl | rs34586189 |
geneview | rs34586189 |
scholar | rs34586189 |
rs34586189 | |
pharmgkb | rs34586189 |
gwascentral | rs34586189 |
openSNP | rs34586189 |
23andMe | rs34586189 |
SNPshot | rs34586189 |
SNPdbe | rs34586189 |
MSV3d | rs34586189 |
GWAS Ctlg | rs34586189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34586189(A;A) |
Alt | rs34586189(A;A) |
Reference | Rs34586189(G;G) |
Significance | Other |
Disease | HEMOGLOBIN MANTES-LA-JOLIE |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN MANTES-LA-JOLIE |
Reversed | 0 |
HGVS | NC_000016.9:g.227070G>A |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000017213.2, |
[PMID 8537232] Three new neutral alpha chain variants: Hb Bois Guillaume [alpha 65(E14(Ala-->Val], Hb Mantes-la-Jolie [alpha 79(EF8)Ala-Thr], and Hb Mosella [alpha 111(G18)Ala-->Thr].