rs34870172
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34870172(G;G) |
Make rs34870172(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226656 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34870172 |
dbSNP (classic) | rs34870172 |
ClinGen | rs34870172 |
ebi | rs34870172 |
HLI | rs34870172 |
Exac | rs34870172 |
Gnomad | rs34870172 |
Varsome | rs34870172 |
LitVar | rs34870172 |
Map | rs34870172 |
PheGenI | rs34870172 |
Biobank | rs34870172 |
1000 genomes | rs34870172 |
hgdp | rs34870172 |
ensembl | rs34870172 |
geneview | rs34870172 |
scholar | rs34870172 |
rs34870172 | |
pharmgkb | rs34870172 |
gwascentral | rs34870172 |
openSNP | rs34870172 |
23andMe | rs34870172 |
SNPshot | rs34870172 |
SNPdbe | rs34870172 |
MSV3d | rs34870172 |
GWAS Ctlg | rs34870172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34870172(G;G) |
Alt | rs34870172(G;G) |
Reference | Rs34870172(T;T) |
Significance | Other |
Disease | HEMOGLOBIN QUIN-HAI |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN QUIN-HAI |
Reversed | 1 |
HGVS | NC_000011.9:g.5247886A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016554.2, |
[PMID 6629822] Hemoglobin Quin-Hai, beta 78 (EF2) Leu replaced by Arg, a new abnormal hemoglobin found in Guangdong, China.