rs35993655
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Alpha-thalassemia allele carrier |
(T;T) | 0 | common in complete genomics |
Make rs35993655(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177371 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35993655 |
dbSNP (classic) | rs35993655 |
ClinGen | rs35993655 |
ebi | rs35993655 |
HLI | rs35993655 |
Exac | rs35993655 |
Gnomad | rs35993655 |
Varsome | rs35993655 |
LitVar | rs35993655 |
Map | rs35993655 |
PheGenI | rs35993655 |
Biobank | rs35993655 |
1000 genomes | rs35993655 |
hgdp | rs35993655 |
ensembl | rs35993655 |
geneview | rs35993655 |
scholar | rs35993655 |
rs35993655 | |
pharmgkb | rs35993655 |
gwascentral | rs35993655 |
openSNP | rs35993655 |
23andMe | rs35993655 |
SNPshot | rs35993655 |
SNPdbe | rs35993655 |
MSV3d | rs35993655 |
GWAS Ctlg | rs35993655 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs35993655(C;C) |
Alt | rs35993655(C;C) |
Reference | Rs35993655(T;T) |
Significance | Other |
Disease | HEMOGLOBIN TUNIS-BIZERTE |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN TUNIS-BIZERTE |
Reversed | 0 |
HGVS | NC_000016.9:g.227370T>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017211.2, |
[PMID 7786798] Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype.