rs36006214
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs36006214(G;T) |
Make rs36006214(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226968 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs36006214 |
dbSNP (classic) | rs36006214 |
ClinGen | rs36006214 |
ebi | rs36006214 |
HLI | rs36006214 |
Exac | rs36006214 |
Gnomad | rs36006214 |
Varsome | rs36006214 |
LitVar | rs36006214 |
Map | rs36006214 |
PheGenI | rs36006214 |
Biobank | rs36006214 |
1000 genomes | rs36006214 |
hgdp | rs36006214 |
ensembl | rs36006214 |
geneview | rs36006214 |
scholar | rs36006214 |
rs36006214 | |
pharmgkb | rs36006214 |
gwascentral | rs36006214 |
openSNP | rs36006214 |
23andMe | rs36006214 |
SNPshot | rs36006214 |
SNPdbe | rs36006214 |
MSV3d | rs36006214 |
GWAS Ctlg | rs36006214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs36006214(C;C) rs36006214(T;T) |
Alt | rs36006214(C;C) rs36006214(T;T) |
Reference | Rs36006214(G;G) |
Significance | Other |
Disease | HEMOGLOBIN J (AMIENS) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN J (AMIENS) |
Reversed | 1 |
HGVS | NC_000011.9:g.5248198C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016397.3, |
[PMID 2101004] Hb J-Amiens [beta 17(A14)Lys----Asn] found in a Japanese.