rs35983258
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35983258(C;T) |
Make rs35983258(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5250053 |
Gene | HBG1 |
is a | snp |
is | mentioned by |
dbSNP | rs35983258 |
dbSNP (classic) | rs35983258 |
ClinGen | rs35983258 |
ebi | rs35983258 |
HLI | rs35983258 |
Exac | rs35983258 |
Gnomad | rs35983258 |
Varsome | rs35983258 |
LitVar | rs35983258 |
Map | rs35983258 |
PheGenI | rs35983258 |
Biobank | rs35983258 |
1000 genomes | rs35983258 |
hgdp | rs35983258 |
ensembl | rs35983258 |
geneview | rs35983258 |
scholar | rs35983258 |
rs35983258 | |
pharmgkb | rs35983258 |
gwascentral | rs35983258 |
openSNP | rs35983258 |
23andMe | rs35983258 |
SNPshot | rs35983258 |
SNPdbe | rs35983258 |
MSV3d | rs35983258 |
GWAS Ctlg | rs35983258 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35983258(T;T) |
Alt | rs35983258(T;T) |
Reference | Rs35983258(C;C) |
Significance | Pathogenic |
Disease | Fetal hemoglobin quantitative trait locus 1 |
Variation | info |
Gene | HBG1 |
CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.5271283G>A |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016177.22, |
[PMID 6210198] A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia.