rs193922563
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGGTCTATTTTCCCACCCTTAGGCT;TGGTCTATTTTCCCACCCTTAGGCT) | 0 | common in clinvar |
Make rs193922563(-;-) |
Make rs193922563(-;TGGTCTATTTTCCCACCCTTAGGCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226797 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs193922563 |
dbSNP (classic) | rs193922563 |
ClinGen | rs193922563 |
ebi | rs193922563 |
HLI | rs193922563 |
Exac | rs193922563 |
Gnomad | rs193922563 |
Varsome | rs193922563 |
LitVar | rs193922563 |
Map | rs193922563 |
PheGenI | rs193922563 |
Biobank | rs193922563 |
1000 genomes | rs193922563 |
hgdp | rs193922563 |
ensembl | rs193922563 |
geneview | rs193922563 |
scholar | rs193922563 |
rs193922563 | |
pharmgkb | rs193922563 |
gwascentral | rs193922563 |
openSNP | rs193922563 |
23andMe | rs193922563 |
SNPshot | rs193922563 |
SNPdbe | rs193922563 |
MSV3d | rs193922563 |
GWAS Ctlg | rs193922563 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922563(-;-) |
Alt | rs193922563(-;-) |
Reference | Rs193922563(TGGTCTATTTTCCCACCCTTAGGCT;TGGTCTATTTTCCCACCCTTAGGCT) |
Significance | Pathogenic |
Disease | beta^0^ Thalassemia Beta Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta^0^ Thalassemia beta Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5248027_5248051del25 |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016700.26, RCV000030009.1, |