rs35685286
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35685286(A;A) |
Make rs35685286(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5226933 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35685286 |
dbSNP (classic) | rs35685286 |
ClinGen | rs35685286 |
ebi | rs35685286 |
HLI | rs35685286 |
Exac | rs35685286 |
Gnomad | rs35685286 |
Varsome | rs35685286 |
LitVar | rs35685286 |
Map | rs35685286 |
PheGenI | rs35685286 |
Biobank | rs35685286 |
1000 genomes | rs35685286 |
hgdp | rs35685286 |
ensembl | rs35685286 |
geneview | rs35685286 |
scholar | rs35685286 |
rs35685286 | |
pharmgkb | rs35685286 |
gwascentral | rs35685286 |
openSNP | rs35685286 |
23andMe | rs35685286 |
SNPshot | rs35685286 |
SNPdbe | rs35685286 |
MSV3d | rs35685286 |
GWAS Ctlg | rs35685286 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35685286(A;A) |
Alt | rs35685286(A;A) |
Reference | Rs35685286(G;G) |
Significance | Other |
Disease | HEMOGLOBIN LUFKIN |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN LUFKIN |
Reversed | 1 |
HGVS | NC_000011.9:g.5248163C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016460.2, |
[PMID 24022] Hemoglobin Lufkin: beta 29 (B11) Gly replaced by Asp. An unstable hemoglobin variant involving an internal amino acid residue.
[PMID 8537234] Hb S-Hb Lufkin disease in a black male infant.