rs63751285
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs63751285(C;C) |
Make rs63751285(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226973 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs63751285 |
dbSNP (classic) | rs63751285 |
ClinGen | rs63751285 |
ebi | rs63751285 |
HLI | rs63751285 |
Exac | rs63751285 |
Gnomad | rs63751285 |
Varsome | rs63751285 |
LitVar | rs63751285 |
Map | rs63751285 |
PheGenI | rs63751285 |
Biobank | rs63751285 |
1000 genomes | rs63751285 |
hgdp | rs63751285 |
ensembl | rs63751285 |
geneview | rs63751285 |
scholar | rs63751285 |
rs63751285 | |
pharmgkb | rs63751285 |
gwascentral | rs63751285 |
openSNP | rs63751285 |
23andMe | rs63751285 |
SNPshot | rs63751285 |
SNPdbe | rs63751285 |
MSV3d | rs63751285 |
GWAS Ctlg | rs63751285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751285(C;C) rs63751285(T;T) |
Alt | rs63751285(C;C) rs63751285(T;T) |
Reference | Rs63751285(G;G) |
Significance | Other |
Disease | HEMOGLOBIN D (BUSHMAN) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN D (BUSHMAN) |
Reversed | 1 |
HGVS | NC_000011.9:g.5248203C>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016311.2, |
[PMID 6082467] Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg.