rs796064506
From SNPedia
Merged into | rs794728001 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTGT;CTGT) | 0 | common in clinvar |
Make rs796064506(-;-) |
Make rs796064506(-;CTGT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 30615771 |
Gene | TCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs796064506 |
dbSNP (classic) | rs796064506 |
ClinGen | rs796064506 |
ebi | rs796064506 |
HLI | rs796064506 |
Exac | rs796064506 |
Gnomad | rs796064506 |
Varsome | rs796064506 |
LitVar | rs796064506 |
Map | rs796064506 |
PheGenI | rs796064506 |
Biobank | rs796064506 |
1000 genomes | rs796064506 |
hgdp | rs796064506 |
ensembl | rs796064506 |
geneview | rs796064506 |
scholar | rs796064506 |
rs796064506 | |
pharmgkb | rs796064506 |
gwascentral | rs796064506 |
openSNP | rs796064506 |
23andMe | rs796064506 |
SNPshot | rs796064506 |
SNPdbe | rs796064506 |
MSV3d | rs796064506 |
GWAS Ctlg | rs796064506 |
Status | Merged into rs794728001 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs796064506(CTGT;CTGT) |
Significance | Pathogenic |
Disease | Transcobalamin II deficiency |
Variation | info |
Gene | TCN2 |
CLNDBN | Transcobalamin II deficiency |
Reversed | 0 |
HGVS | NC_000022.10:g.31011761_31011764delTCTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000116.3, |