rs606231215
From SNPedia
Merged into | rs34224604 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs606231215(-;-) |
Make rs606231215(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 5234127 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs606231215 |
dbSNP (classic) | rs606231215 |
ClinGen | rs606231215 |
ebi | rs606231215 |
HLI | rs606231215 |
Exac | rs606231215 |
Gnomad | rs606231215 |
Varsome | rs606231215 |
LitVar | rs606231215 |
Map | rs606231215 |
PheGenI | rs606231215 |
Biobank | rs606231215 |
1000 genomes | rs606231215 |
hgdp | rs606231215 |
ensembl | rs606231215 |
geneview | rs606231215 |
scholar | rs606231215 |
rs606231215 | |
pharmgkb | rs606231215 |
gwascentral | rs606231215 |
openSNP | rs606231215 |
23andMe | rs606231215 |
SNPshot | rs606231215 |
SNPdbe | rs606231215 |
MSV3d | rs606231215 |
GWAS Ctlg | rs606231215 |
Status | Merged into rs34224604 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs606231215(A;A) |
Significance | Pathogenic |
Disease | Delta-zero-thalassemia |
Variation | info |
Gene | HBD |
CLNDBN | Delta-zero-thalassemia, knossos type |
Reversed | 1 |
HGVS | NC_000011.9:g.5255357delT |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016215.25, |