rs33961459
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33961459(C;T) |
Make rs33961459(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226687 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33961459 |
dbSNP (classic) | rs33961459 |
ClinGen | rs33961459 |
ebi | rs33961459 |
HLI | rs33961459 |
Exac | rs33961459 |
Gnomad | rs33961459 |
Varsome | rs33961459 |
LitVar | rs33961459 |
Map | rs33961459 |
PheGenI | rs33961459 |
Biobank | rs33961459 |
1000 genomes | rs33961459 |
hgdp | rs33961459 |
ensembl | rs33961459 |
geneview | rs33961459 |
scholar | rs33961459 |
rs33961459 | |
pharmgkb | rs33961459 |
gwascentral | rs33961459 |
openSNP | rs33961459 |
23andMe | rs33961459 |
SNPshot | rs33961459 |
SNPdbe | rs33961459 |
MSV3d | rs33961459 |
GWAS Ctlg | rs33961459 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33961459(T;T) |
Alt | rs33961459(T;T) |
Reference | Rs33961459(C;C) |
Significance | Other |
Disease | HEMOGLOBIN JAMAICA PLAIN HEMOGLOBIN ROCKFORD |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN JAMAICA PLAIN HEMOGLOBIN ROCKFORD |
Reversed | 1 |
HGVS | NC_000011.9:g.5247917G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016879.3, RCV000016880.2, |
[PMID 16550507] Hemoglobin Loves Park [beta68 (E12) Leu-->Phe]: report of five cases including one originating from a de novo mutation.