rs35317336
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35317336(C;G) |
Make rs35317336(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176996 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35317336 |
dbSNP (classic) | rs35317336 |
ClinGen | rs35317336 |
ebi | rs35317336 |
HLI | rs35317336 |
Exac | rs35317336 |
Gnomad | rs35317336 |
Varsome | rs35317336 |
LitVar | rs35317336 |
Map | rs35317336 |
PheGenI | rs35317336 |
Biobank | rs35317336 |
1000 genomes | rs35317336 |
hgdp | rs35317336 |
ensembl | rs35317336 |
geneview | rs35317336 |
scholar | rs35317336 |
rs35317336 | |
pharmgkb | rs35317336 |
gwascentral | rs35317336 |
openSNP | rs35317336 |
23andMe | rs35317336 |
SNPshot | rs35317336 |
SNPdbe | rs35317336 |
MSV3d | rs35317336 |
GWAS Ctlg | rs35317336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35317336(G;G) |
Alt | rs35317336(G;G) |
Reference | Rs35317336(C;C) |
Significance | Other |
Disease | HEMOGLOBIN MEXICO HEMOGLOBIN J HEMOGLOBIN J (MEXICO) HEMOGLOBIN J (PARIS 2) HEMOGLOBIN UPPSALA |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN MEXICO HEMOGLOBIN J HEMOGLOBIN J (MEXICO) HEMOGLOBIN J (PARIS 2) HEMOGLOBIN UPPSALA |
Reversed | 0 |
HGVS | NC_000016.9:g.226995C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017109.2, RCV000017110.2, RCV000017111.2, RCV000017112.2, RCV000017113.2, |
[PMID 71990] Demonstration of two alpha-globin genes per human haploid genome for normals and Hb J Mexico.
[PMID 669703] Genetic and biosynthetic studies of families carrying hemoglobin J alpha Mexico: association of alpha-thalassemia with HbJ.
[PMID 1052168] Homozygous cases for hemoglobin J Mexico (alpha54 (E3)Gln replaced by Glu) evidence for a duplicated alpha gene with unequal expression.
[PMID 5650416] Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas.
[PMID 5798597] On the chemical structure of haemoglobin Uppsala.