rs63751425
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs63751425(-;-) |
Make rs63751425(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225608 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs63751425 |
dbSNP (classic) | rs63751425 |
ClinGen | rs63751425 |
ebi | rs63751425 |
HLI | rs63751425 |
Exac | rs63751425 |
Gnomad | rs63751425 |
Varsome | rs63751425 |
LitVar | rs63751425 |
Map | rs63751425 |
PheGenI | rs63751425 |
Biobank | rs63751425 |
1000 genomes | rs63751425 |
hgdp | rs63751425 |
ensembl | rs63751425 |
geneview | rs63751425 |
scholar | rs63751425 |
rs63751425 | |
pharmgkb | rs63751425 |
gwascentral | rs63751425 |
openSNP | rs63751425 |
23andMe | rs63751425 |
SNPshot | rs63751425 |
SNPdbe | rs63751425 |
MSV3d | rs63751425 |
GWAS Ctlg | rs63751425 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751425(-;-) |
Alt | rs63751425(-;-) |
Reference | Rs63751425(A;A) |
Significance | Other |
Disease | HEMOGLOBIN TRENTO |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN TRENTO |
Reversed | 1 |
HGVS | NC_000011.9:g.5246838delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016871.2, |
[PMID 12603089] Hb Trento: an elongated C-terminal beta chain due to a new frameshift mutation [beta144 (-A)].