rs35816645
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35816645(C;C) |
Make rs35816645(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176762 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35816645 |
dbSNP (classic) | rs35816645 |
ClinGen | rs35816645 |
ebi | rs35816645 |
HLI | rs35816645 |
Exac | rs35816645 |
Gnomad | rs35816645 |
Varsome | rs35816645 |
LitVar | rs35816645 |
Map | rs35816645 |
PheGenI | rs35816645 |
Biobank | rs35816645 |
1000 genomes | rs35816645 |
hgdp | rs35816645 |
ensembl | rs35816645 |
geneview | rs35816645 |
scholar | rs35816645 |
rs35816645 | |
pharmgkb | rs35816645 |
gwascentral | rs35816645 |
openSNP | rs35816645 |
23andMe | rs35816645 |
SNPshot | rs35816645 |
SNPdbe | rs35816645 |
MSV3d | rs35816645 |
GWAS Ctlg | rs35816645 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35816645(C;C) rs35816645(T;T) |
Alt | rs35816645(C;C) rs35816645(T;T) |
Reference | Rs35816645(G;G) |
Significance | Other |
Disease | HEMOGLOBIN OTTAWA HEMOGLOBIN SIAM |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN OTTAWA HEMOGLOBIN SIAM |
Reversed | 0 |
HGVS | NC_000016.9:g.226761G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017136.2, RCV000017137.2, |
[PMID 4135957] Hemoglobin Siam (alpha 2 15 arg beta 2): a new alpha-chain variant.
[PMID 11939517] Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect.