rs34151786
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34151786(A;A) |
Make rs34151786(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226704 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34151786 |
dbSNP (classic) | rs34151786 |
ClinGen | rs34151786 |
ebi | rs34151786 |
HLI | rs34151786 |
Exac | rs34151786 |
Gnomad | rs34151786 |
Varsome | rs34151786 |
LitVar | rs34151786 |
Map | rs34151786 |
PheGenI | rs34151786 |
Biobank | rs34151786 |
1000 genomes | rs34151786 |
hgdp | rs34151786 |
ensembl | rs34151786 |
geneview | rs34151786 |
scholar | rs34151786 |
rs34151786 | |
pharmgkb | rs34151786 |
gwascentral | rs34151786 |
openSNP | rs34151786 |
23andMe | rs34151786 |
SNPshot | rs34151786 |
SNPdbe | rs34151786 |
MSV3d | rs34151786 |
GWAS Ctlg | rs34151786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34151786(A;A) rs34151786(T;T) |
Alt | rs34151786(A;A) rs34151786(T;T) |
Reference | Rs34151786(C;C) |
Significance | Other |
Disease | HEMOGLOBIN J (EUROPA) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN J (EUROPA) |
Reversed | 1 |
HGVS | NC_000011.9:g.5247934G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016819.2, |
[PMID 8811317] Hb J-Europa [beta 62(E6)Ala-->Asp]: normal oxygen binding properties in a new variant involving a residue located distal to the heme.