rs35068498
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs35068498(A;G) |
Make rs35068498(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226620 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35068498 |
dbSNP (classic) | rs35068498 |
ClinGen | rs35068498 |
ebi | rs35068498 |
HLI | rs35068498 |
Exac | rs35068498 |
Gnomad | rs35068498 |
Varsome | rs35068498 |
LitVar | rs35068498 |
Map | rs35068498 |
PheGenI | rs35068498 |
Biobank | rs35068498 |
1000 genomes | rs35068498 |
hgdp | rs35068498 |
ensembl | rs35068498 |
geneview | rs35068498 |
scholar | rs35068498 |
rs35068498 | |
pharmgkb | rs35068498 |
gwascentral | rs35068498 |
openSNP | rs35068498 |
23andMe | rs35068498 |
SNPshot | rs35068498 |
SNPdbe | rs35068498 |
MSV3d | rs35068498 |
GWAS Ctlg | rs35068498 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35068498(G;G) |
Alt | rs35068498(G;G) |
Reference | Rs35068498(A;A) |
Significance | Other |
Disease | HEMOGLOBIN ROSEAU-POINTE A PITRE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN ROSEAU-POINTE A PITRE |
Reversed | 1 |
HGVS | NC_000011.9:g.5247850T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016570.2, |
[PMID 3838727] Hemoglobin Roseau-Pointe a Pitre alpha 2 beta 2(90) (F6) Glu----Gly: a new hemoglobin variant with slight instability and low oxygen affinity.