rs35825479
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs35825479(C;C) |
Make rs35825479(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225641 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35825479 |
dbSNP (classic) | rs35825479 |
ClinGen | rs35825479 |
ebi | rs35825479 |
HLI | rs35825479 |
Exac | rs35825479 |
Gnomad | rs35825479 |
Varsome | rs35825479 |
LitVar | rs35825479 |
Map | rs35825479 |
PheGenI | rs35825479 |
Biobank | rs35825479 |
1000 genomes | rs35825479 |
hgdp | rs35825479 |
ensembl | rs35825479 |
geneview | rs35825479 |
scholar | rs35825479 |
rs35825479 | |
pharmgkb | rs35825479 |
gwascentral | rs35825479 |
openSNP | rs35825479 |
23andMe | rs35825479 |
SNPshot | rs35825479 |
SNPdbe | rs35825479 |
MSV3d | rs35825479 |
GWAS Ctlg | rs35825479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35825479(C;C) |
Alt | rs35825479(C;C) |
Reference | Rs35825479(T;T) |
Significance | Other |
Disease | HEMOGLOBIN RENERT |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN RENERT |
Reversed | 1 |
HGVS | NC_000011.9:g.5246871A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016852.2, |
[PMID 11186258] Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis.
[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.
[PMID 11570728] A second case of Hb Renert [beta133(H11)Val --> Ala].