rs606231218
From SNPedia
Merged into | rs35532010 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231218(-;C) |
Make rs606231218(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 5226936 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs606231218 |
dbSNP (classic) | rs606231218 |
ClinGen | rs606231218 |
ebi | rs606231218 |
HLI | rs606231218 |
Exac | rs606231218 |
Gnomad | rs606231218 |
Varsome | rs606231218 |
LitVar | rs606231218 |
Map | rs606231218 |
PheGenI | rs606231218 |
Biobank | rs606231218 |
1000 genomes | rs606231218 |
hgdp | rs606231218 |
ensembl | rs606231218 |
geneview | rs606231218 |
scholar | rs606231218 |
rs606231218 | |
pharmgkb | rs606231218 |
gwascentral | rs606231218 |
openSNP | rs606231218 |
23andMe | rs606231218 |
SNPshot | rs606231218 |
SNPdbe | rs606231218 |
MSV3d | rs606231218 |
GWAS Ctlg | rs606231218 |
Status | Merged into rs35532010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231218(C;C) |
Alt | rs606231218(C;C) |
Reference | Rs606231218(;) |
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.5248168dupG |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016689.26, RCV000169441.1, |