rs80356821
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTTT;CTTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TCTT;TCTT) | 0 | common in clinvar |
(TTCT;TTCT) | 0 | common in clinvar |
Make rs80356821(-;-) |
Make rs80356821(-;TTCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226765 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs80356821 |
dbSNP (classic) | rs80356821 |
ClinGen | rs80356821 |
ebi | rs80356821 |
HLI | rs80356821 |
Exac | rs80356821 |
Gnomad | rs80356821 |
Varsome | rs80356821 |
LitVar | rs80356821 |
Map | rs80356821 |
PheGenI | rs80356821 |
Biobank | rs80356821 |
1000 genomes | rs80356821 |
hgdp | rs80356821 |
ensembl | rs80356821 |
geneview | rs80356821 |
scholar | rs80356821 |
rs80356821 | |
pharmgkb | rs80356821 |
gwascentral | rs80356821 |
openSNP | rs80356821 |
23andMe | rs80356821 |
SNPshot | rs80356821 |
SNPdbe | rs80356821 |
MSV3d | rs80356821 |
GWAS Ctlg | rs80356821 |
Merged from | Rs281864900 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs80356821(CTTT;CTTT) rs80356821(-;-) |
Alt | Rs80356821(CTTT;CTTT) rs80356821(-;-) |
Reference | Rs80356821(TTCT;TTCT) |
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.5247993_5247996delAAAG |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016673.27, RCV000020328.2, |