rs797044712
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044712(-;T) |
Make rs797044712(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 23445159 |
Gene | COG7 |
is a | snp |
is | mentioned by |
dbSNP | rs797044712 |
dbSNP (classic) | rs797044712 |
ClinGen | rs797044712 |
ebi | rs797044712 |
HLI | rs797044712 |
Exac | rs797044712 |
Gnomad | rs797044712 |
Varsome | rs797044712 |
LitVar | rs797044712 |
Map | rs797044712 |
PheGenI | rs797044712 |
Biobank | rs797044712 |
1000 genomes | rs797044712 |
hgdp | rs797044712 |
ensembl | rs797044712 |
geneview | rs797044712 |
scholar | rs797044712 |
rs797044712 | |
pharmgkb | rs797044712 |
gwascentral | rs797044712 |
openSNP | rs797044712 |
23andMe | rs797044712 |
SNPshot | rs797044712 |
SNPdbe | rs797044712 |
MSV3d | rs797044712 |
GWAS Ctlg | rs797044712 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044712(T;T) |
Alt | rs797044712(T;T) |
Reference | Rs797044712(-;-) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 2E |
Variation | info |
Gene | COG7 |
CLNDBN | Congenital disorder of glycosylation type 2E |
Reversed | 1 |
HGVS | NC_000016.9:g.23456481dupA |
CLNSRC | |
CLNACC | RCV000177415.1, |