rs606231216
From SNPedia
Merged into | rs35225141 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231216(-;G) |
Make rs606231216(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 5225719 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs606231216 |
dbSNP (classic) | rs606231216 |
ClinGen | rs606231216 |
ebi | rs606231216 |
HLI | rs606231216 |
Exac | rs606231216 |
Gnomad | rs606231216 |
Varsome | rs606231216 |
LitVar | rs606231216 |
Map | rs606231216 |
PheGenI | rs606231216 |
Biobank | rs606231216 |
1000 genomes | rs606231216 |
hgdp | rs606231216 |
ensembl | rs606231216 |
geneview | rs606231216 |
scholar | rs606231216 |
rs606231216 | |
pharmgkb | rs606231216 |
gwascentral | rs606231216 |
openSNP | rs606231216 |
23andMe | rs606231216 |
SNPshot | rs606231216 |
SNPdbe | rs606231216 |
MSV3d | rs606231216 |
GWAS Ctlg | rs606231216 |
Status | Merged into rs35225141 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231216(G;G) |
Alt | rs606231216(G;G) |
Reference | Rs606231216(;) |
Significance | Pathogenic |
Disease | beta^0^ Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta^0^ Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5246951dupC |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016668.26, |