rs757649673
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAACCTC;TAACCTC) | 0 | common in clinvar |
Make rs757649673(-;-) |
Make rs757649673(-;TAACCTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 16918688 |
Gene | CUBN |
is a | snp |
is | mentioned by |
dbSNP | rs757649673 |
dbSNP (classic) | rs757649673 |
ClinGen | rs757649673 |
ebi | rs757649673 |
HLI | rs757649673 |
Exac | rs757649673 |
Gnomad | rs757649673 |
Varsome | rs757649673 |
LitVar | rs757649673 |
Map | rs757649673 |
PheGenI | rs757649673 |
Biobank | rs757649673 |
1000 genomes | rs757649673 |
hgdp | rs757649673 |
ensembl | rs757649673 |
geneview | rs757649673 |
scholar | rs757649673 |
rs757649673 | |
pharmgkb | rs757649673 |
gwascentral | rs757649673 |
openSNP | rs757649673 |
23andMe | rs757649673 |
SNPshot | rs757649673 |
SNPdbe | rs757649673 |
MSV3d | rs757649673 |
GWAS Ctlg | rs757649673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757649673(-;-) |
Alt | rs757649673(-;-) |
Reference | Rs757649673(TAACCTC;TAACCTC) |
Significance | Pathogenic |
Disease | Megaloblastic anemia due to inborn errors of metabolism |
Variation | info |
Gene | CUBN |
CLNDBN | Megaloblastic anemia due to inborn errors of metabolism |
Reversed | 0 |
HGVS | NC_000010.10:g.16960687_16960693delTAACCTC |
CLNSRC | |
CLNACC | RCV000169656.1, |