rs34218295
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
Make rs34218295(-;-) |
Make rs34218295(-;GTG) |
Make rs34218295(GTG;GTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5232994 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34218295 |
dbSNP (classic) | rs34218295 |
ClinGen | rs34218295 |
ebi | rs34218295 |
HLI | rs34218295 |
Exac | rs34218295 |
Gnomad | rs34218295 |
Varsome | rs34218295 |
LitVar | rs34218295 |
Map | rs34218295 |
PheGenI | rs34218295 |
Biobank | rs34218295 |
1000 genomes | rs34218295 |
hgdp | rs34218295 |
ensembl | rs34218295 |
geneview | rs34218295 |
scholar | rs34218295 |
rs34218295 | |
pharmgkb | rs34218295 |
gwascentral | rs34218295 |
openSNP | rs34218295 |
23andMe | rs34218295 |
SNPshot | rs34218295 |
SNPdbe | rs34218295 |
MSV3d | rs34218295 |
GWAS Ctlg | rs34218295 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34218295(GTGG;GTGG) rs34218295(G;G) |
Alt | rs34218295(GTGG;GTGG) rs34218295(G;G) |
Reference | rs34218295(TGG;TGG) |
Significance | Other |
Disease | HEMOGLOBIN LINCOLN PARK Hbb/hbd anti-lepore |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN LINCOLN PARK Hbb/hbd anti-lepore |
Reversed | 1 |
HGVS | NC_000011.9:g.5254224_5254226delCAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016453.1, RCV000016454.21, |
[PMID 274735] Hemoglobin Lincoln Park: a betadelta fusion (anti-Lepore) variant with an amino acid deletion in the delta chain-derived segment.
[PMID 753103] Unbalanced globin chain synthesis by Hb Lincoln Park (anti-Lepore) reticulocytes.