rs35819837
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35819837(A;A) |
Make rs35819837(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226632 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35819837 |
dbSNP (classic) | rs35819837 |
ClinGen | rs35819837 |
ebi | rs35819837 |
HLI | rs35819837 |
Exac | rs35819837 |
Gnomad | rs35819837 |
Varsome | rs35819837 |
LitVar | rs35819837 |
Map | rs35819837 |
PheGenI | rs35819837 |
Biobank | rs35819837 |
1000 genomes | rs35819837 |
hgdp | rs35819837 |
ensembl | rs35819837 |
geneview | rs35819837 |
scholar | rs35819837 |
rs35819837 | |
pharmgkb | rs35819837 |
gwascentral | rs35819837 |
openSNP | rs35819837 |
23andMe | rs35819837 |
SNPshot | rs35819837 |
SNPdbe | rs35819837 |
MSV3d | rs35819837 |
GWAS Ctlg | rs35819837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35819837(A;A) rs35819837(T;T) |
Alt | rs35819837(A;A) rs35819837(T;T) |
Reference | Rs35819837(C;C) |
Significance | Other |
Disease | HEMOGLOBIN OLOMOUC |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN OLOMOUC |
Reversed | 1 |
HGVS | NC_000011.9:g.5247862G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016532.2, |
[PMID 1634364] Hb Olomouc [alpha 2 beta 2(86)(F2)Ala----Asp] found in a Japanese family.
[PMID 3623975] Hb Olomouc or alpha 2 beta 2(86)(F2)Ala----Asp, a new high oxygen affinity variant.