rs794728001
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTGT;CTGT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TCTG;TCTG) | 0 | common in clinvar |
Make rs794728001(-;-) |
Make rs794728001(-;TCTG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 30615774 |
Gene | TCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728001 |
dbSNP (classic) | rs794728001 |
ClinGen | rs794728001 |
ebi | rs794728001 |
HLI | rs794728001 |
Exac | rs794728001 |
Gnomad | rs794728001 |
Varsome | rs794728001 |
LitVar | rs794728001 |
Map | rs794728001 |
PheGenI | rs794728001 |
Biobank | rs794728001 |
1000 genomes | rs794728001 |
hgdp | rs794728001 |
ensembl | rs794728001 |
geneview | rs794728001 |
scholar | rs794728001 |
rs794728001 | |
pharmgkb | rs794728001 |
gwascentral | rs794728001 |
openSNP | rs794728001 |
23andMe | rs794728001 |
SNPshot | rs794728001 |
SNPdbe | rs794728001 |
MSV3d | rs794728001 |
GWAS Ctlg | rs794728001 |
Merged from | Rs796064506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728001(-;-) Rs794728001(CTGT;CTGT) |
Alt | rs794728001(-;-) Rs794728001(CTGT;CTGT) |
Reference | Rs794728001(TCTG;TCTG) |
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, |