rs41510746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs41510746(A;A) |
Make rs41510746(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173225 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41510746 |
dbSNP (classic) | rs41510746 |
ClinGen | rs41510746 |
ebi | rs41510746 |
HLI | rs41510746 |
Exac | rs41510746 |
Gnomad | rs41510746 |
Varsome | rs41510746 |
LitVar | rs41510746 |
Map | rs41510746 |
PheGenI | rs41510746 |
Biobank | rs41510746 |
1000 genomes | rs41510746 |
hgdp | rs41510746 |
ensembl | rs41510746 |
geneview | rs41510746 |
scholar | rs41510746 |
rs41510746 | |
pharmgkb | rs41510746 |
gwascentral | rs41510746 |
openSNP | rs41510746 |
23andMe | rs41510746 |
SNPshot | rs41510746 |
SNPdbe | rs41510746 |
MSV3d | rs41510746 |
GWAS Ctlg | rs41510746 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41510746(A;A) |
Alt | rs41510746(A;A) |
Reference | Rs41510746(G;G) |
Significance | Other |
Disease | HEMOGLOBIN PART-DIEU |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN PART-DIEU |
Reversed | 0 |
HGVS | NC_000016.9:g.223224G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016972.2, |
[PMID 15008265] Two new alpha chain variants: Hb Part-Dieu [alpha65(E14)Ala --> Thr (alpha2)] and Hb Decines-Charpieu [alpha69(E18)Ala --> Thr (alpha2)].