rs372866837
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs372866837(A;G) |
Make rs372866837(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 30615125 |
Gene | TCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs372866837 |
dbSNP (classic) | rs372866837 |
ClinGen | rs372866837 |
ebi | rs372866837 |
HLI | rs372866837 |
Exac | rs372866837 |
Gnomad | rs372866837 |
Varsome | rs372866837 |
LitVar | rs372866837 |
Map | rs372866837 |
PheGenI | rs372866837 |
Biobank | rs372866837 |
1000 genomes | rs372866837 |
hgdp | rs372866837 |
ensembl | rs372866837 |
geneview | rs372866837 |
scholar | rs372866837 |
rs372866837 | |
pharmgkb | rs372866837 |
gwascentral | rs372866837 |
openSNP | rs372866837 |
23andMe | rs372866837 |
SNPshot | rs372866837 |
SNPdbe | rs372866837 |
MSV3d | rs372866837 |
GWAS Ctlg | rs372866837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372866837(G;G) rs372866837(T;T) |
Alt | rs372866837(G;G) rs372866837(T;T) |
Reference | Rs372866837(A;A) |
Significance | Pathogenic |
Disease | Transcolabamin II deficiency |
Variation | info |
Gene | TCN2 |
CLNDBN | Transcolabamin II deficiency |
Reversed | 0 |
HGVS | NC_000022.10:g.31011112A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000120.3, |