rs35203747
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35203747(A;A) |
Make rs35203747(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226981 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35203747 |
dbSNP (classic) | rs35203747 |
ClinGen | rs35203747 |
ebi | rs35203747 |
HLI | rs35203747 |
Exac | rs35203747 |
Gnomad | rs35203747 |
Varsome | rs35203747 |
LitVar | rs35203747 |
Map | rs35203747 |
PheGenI | rs35203747 |
Biobank | rs35203747 |
1000 genomes | rs35203747 |
hgdp | rs35203747 |
ensembl | rs35203747 |
geneview | rs35203747 |
scholar | rs35203747 |
rs35203747 | |
pharmgkb | rs35203747 |
gwascentral | rs35203747 |
openSNP | rs35203747 |
23andMe | rs35203747 |
SNPshot | rs35203747 |
SNPdbe | rs35203747 |
MSV3d | rs35203747 |
GWAS Ctlg | rs35203747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35203747(A;A) |
Alt | rs35203747(A;A) |
Reference | Rs35203747(C;C) |
Significance | Other |
Disease | HEMOGLOBIN J (LENS) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN J (LENS) |
Reversed | 1 |
HGVS | NC_000011.9:g.5248211G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016420.2, |
[PMID 7319057] Structural studies of a new hemoglobin: HbJ lens, beta 13(A10) Ala leads to Asp.