rs35850071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35850071(C;T) |
Make rs35850071(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176727 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35850071 |
dbSNP (classic) | rs35850071 |
ClinGen | rs35850071 |
ebi | rs35850071 |
HLI | rs35850071 |
Exac | rs35850071 |
Gnomad | rs35850071 |
Varsome | rs35850071 |
LitVar | rs35850071 |
Map | rs35850071 |
PheGenI | rs35850071 |
Biobank | rs35850071 |
1000 genomes | rs35850071 |
hgdp | rs35850071 |
ensembl | rs35850071 |
geneview | rs35850071 |
scholar | rs35850071 |
rs35850071 | |
pharmgkb | rs35850071 |
gwascentral | rs35850071 |
openSNP | rs35850071 |
23andMe | rs35850071 |
SNPshot | rs35850071 |
SNPdbe | rs35850071 |
MSV3d | rs35850071 |
GWAS Ctlg | rs35850071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35850071(T;T) |
Alt | rs35850071(T;T) |
Reference | Rs35850071(C;C) |
Significance | Other |
Disease | HEMOGLOBIN DOUALA |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN DOUALA |
Reversed | 0 |
HGVS | NC_000016.9:g.226726C>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000017224.2, |
[PMID 11570726] Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.