rs34095019
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34095019(C;C) |
Make rs34095019(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225642 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34095019 |
dbSNP (classic) | rs34095019 |
ClinGen | rs34095019 |
ebi | rs34095019 |
HLI | rs34095019 |
Exac | rs34095019 |
Gnomad | rs34095019 |
Varsome | rs34095019 |
LitVar | rs34095019 |
Map | rs34095019 |
PheGenI | rs34095019 |
Biobank | rs34095019 |
1000 genomes | rs34095019 |
hgdp | rs34095019 |
ensembl | rs34095019 |
geneview | rs34095019 |
scholar | rs34095019 |
rs34095019 | |
pharmgkb | rs34095019 |
gwascentral | rs34095019 |
openSNP | rs34095019 |
23andMe | rs34095019 |
SNPshot | rs34095019 |
SNPdbe | rs34095019 |
MSV3d | rs34095019 |
GWAS Ctlg | rs34095019 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34095019(A;A) rs34095019(C;C) |
Alt | rs34095019(A;A) rs34095019(C;C) |
Reference | Rs34095019(G;G) |
Significance | Other |
Disease | HEMOGLOBIN EXTREMADURA |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN EXTREMADURA |
Reversed | 1 |
HGVS | NC_000011.9:g.5246872C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016335.2, |
[PMID 2599886] Hb Extremadura or alpha 2 beta 2133 (H11)Val----Leu, a new mildly unstable hemoglobin in a Spanish female.