rs34667595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in complete genomics |
Make rs34667595(-;GAA) |
Make rs34667595(GAA;GAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176947 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34667595 |
dbSNP (classic) | rs34667595 |
ClinGen | rs34667595 |
ebi | rs34667595 |
HLI | rs34667595 |
Exac | rs34667595 |
Gnomad | rs34667595 |
Varsome | rs34667595 |
LitVar | rs34667595 |
Map | rs34667595 |
PheGenI | rs34667595 |
Biobank | rs34667595 |
1000 genomes | rs34667595 |
hgdp | rs34667595 |
ensembl | rs34667595 |
geneview | rs34667595 |
scholar | rs34667595 |
rs34667595 | |
pharmgkb | rs34667595 |
gwascentral | rs34667595 |
openSNP | rs34667595 |
23andMe | rs34667595 |
SNPshot | rs34667595 |
SNPdbe | rs34667595 |
MSV3d | rs34667595 |
GWAS Ctlg | rs34667595 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34667595(GAA;GAA) |
Alt | rs34667595(GAA;GAA) |
Reference | Rs34667595(-;-) |
Significance | Other |
Disease | HEMOGLOBIN CATONSVILLE |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN CATONSVILLE |
Reversed | 0 |
HGVS | NC_000016.9:g.226946_226947insGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017002.2, |
[PMID 2574721] Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system?