rs63750467
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs63750467(A;T) |
Make rs63750467(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177362 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750467 |
dbSNP (classic) | rs63750467 |
ClinGen | rs63750467 |
ebi | rs63750467 |
HLI | rs63750467 |
Exac | rs63750467 |
Gnomad | rs63750467 |
Varsome | rs63750467 |
LitVar | rs63750467 |
Map | rs63750467 |
PheGenI | rs63750467 |
Biobank | rs63750467 |
1000 genomes | rs63750467 |
hgdp | rs63750467 |
ensembl | rs63750467 |
geneview | rs63750467 |
scholar | rs63750467 |
rs63750467 | |
pharmgkb | rs63750467 |
gwascentral | rs63750467 |
openSNP | rs63750467 |
23andMe | rs63750467 |
SNPshot | rs63750467 |
SNPdbe | rs63750467 |
MSV3d | rs63750467 |
GWAS Ctlg | rs63750467 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750467(C;C) rs63750467(G;G) rs63750467(T;T) |
Alt | rs63750467(C;C) rs63750467(G;G) rs63750467(T;T) |
Reference | Rs63750467(A;A) |
Significance | Other |
Disease | HEMOGLOBIN FUKUTOMI |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN FUKUTOMI |
Reversed | 0 |
HGVS | NC_000016.9:g.227361A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017184.2, |
[PMID 2079432] Hb Fukutomi [alpha 126(H9)Asp----Val]: a new hemoglobin variant with high oxygen affinity.