rs35204496
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs35204496(A;T) |
Make rs35204496(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226605 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35204496 |
dbSNP (classic) | rs35204496 |
ClinGen | rs35204496 |
ebi | rs35204496 |
HLI | rs35204496 |
Exac | rs35204496 |
Gnomad | rs35204496 |
Varsome | rs35204496 |
LitVar | rs35204496 |
Map | rs35204496 |
PheGenI | rs35204496 |
Biobank | rs35204496 |
1000 genomes | rs35204496 |
hgdp | rs35204496 |
ensembl | rs35204496 |
geneview | rs35204496 |
scholar | rs35204496 |
rs35204496 | |
pharmgkb | rs35204496 |
gwascentral | rs35204496 |
openSNP | rs35204496 |
23andMe | rs35204496 |
SNPshot | rs35204496 |
SNPdbe | rs35204496 |
MSV3d | rs35204496 |
GWAS Ctlg | rs35204496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35204496(T;T) |
Alt | rs35204496(T;T) |
Reference | Rs35204496(A;A) |
Significance | Other |
Disease | HEMOGLOBIN J (CORDOBA) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN J (CORDOBA) |
Reversed | 1 |
HGVS | NC_000011.9:g.5247835T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016414.3, |
[PMID 3384693] Hb J-Cordoba [alpha 2A beta 2(95)(FG2)Lys----Met]. A new Hb variant found in Argentina.