rs35693898
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs35693898(C;C) |
Make rs35693898(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226635 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35693898 |
dbSNP (classic) | rs35693898 |
ClinGen | rs35693898 |
ebi | rs35693898 |
HLI | rs35693898 |
Exac | rs35693898 |
Gnomad | rs35693898 |
Varsome | rs35693898 |
LitVar | rs35693898 |
Map | rs35693898 |
PheGenI | rs35693898 |
Biobank | rs35693898 |
1000 genomes | rs35693898 |
hgdp | rs35693898 |
ensembl | rs35693898 |
geneview | rs35693898 |
scholar | rs35693898 |
rs35693898 | |
pharmgkb | rs35693898 |
gwascentral | rs35693898 |
openSNP | rs35693898 |
23andMe | rs35693898 |
SNPshot | rs35693898 |
SNPdbe | rs35693898 |
MSV3d | rs35693898 |
GWAS Ctlg | rs35693898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35693898(C;C) |
Alt | rs35693898(C;C) |
Reference | Rs35693898(T;T) |
Significance | Pathogenic |
Disease | Hemoglobinopathy |
Variation | info |
Gene | HBB |
CLNDBN | Hemoglobinopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.5247865A>G |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016279.5, |
[PMID 4205171] A new unstable haemoglobin: Hb Buenos Aires, beta 85 (F1) Phe leads to Ser.