rs35321913
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35321913(C;G) |
Make rs35321913(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5250052 |
Gene | HBG1 |
is a | snp |
is | mentioned by |
dbSNP | rs35321913 |
dbSNP (classic) | rs35321913 |
ClinGen | rs35321913 |
ebi | rs35321913 |
HLI | rs35321913 |
Exac | rs35321913 |
Gnomad | rs35321913 |
Varsome | rs35321913 |
LitVar | rs35321913 |
Map | rs35321913 |
PheGenI | rs35321913 |
Biobank | rs35321913 |
1000 genomes | rs35321913 |
hgdp | rs35321913 |
ensembl | rs35321913 |
geneview | rs35321913 |
scholar | rs35321913 |
rs35321913 | |
pharmgkb | rs35321913 |
gwascentral | rs35321913 |
openSNP | rs35321913 |
23andMe | rs35321913 |
SNPshot | rs35321913 |
SNPdbe | rs35321913 |
MSV3d | rs35321913 |
GWAS Ctlg | rs35321913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35321913(G;G) |
Alt | rs35321913(G;G) |
Reference | Rs35321913(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.5271282G>C |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016178.25, |
[PMID 2224140] The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C----G substitution at nucleotide -195 of the A gamma-globin gene.