rs63751008
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs63751008(A;A) |
Make rs63751008(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177346 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs63751008 |
dbSNP (classic) | rs63751008 |
ClinGen | rs63751008 |
ebi | rs63751008 |
HLI | rs63751008 |
Exac | rs63751008 |
Gnomad | rs63751008 |
Varsome | rs63751008 |
LitVar | rs63751008 |
Map | rs63751008 |
PheGenI | rs63751008 |
Biobank | rs63751008 |
1000 genomes | rs63751008 |
hgdp | rs63751008 |
ensembl | rs63751008 |
geneview | rs63751008 |
scholar | rs63751008 |
rs63751008 | |
pharmgkb | rs63751008 |
gwascentral | rs63751008 |
openSNP | rs63751008 |
23andMe | rs63751008 |
SNPshot | rs63751008 |
SNPdbe | rs63751008 |
MSV3d | rs63751008 |
GWAS Ctlg | rs63751008 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751008(A;A) |
Alt | rs63751008(A;A) |
Reference | Rs63751008(G;G) |
Significance | Other |
Disease | HEMOGLOBIN OWARI |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN OWARI |
Reversed | 0 |
HGVS | NC_000016.9:g.227345G>A |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017138.2, |
[PMID 3754245] Hb Owari [alpha 121 (H 4) Val----Met]: a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing.