rs869312860
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs869312860(A;G) |
Make rs869312860(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 48905109 |
Gene | SLC35A2 |
is a | snp |
is | mentioned by |
dbSNP | rs869312860 |
dbSNP (classic) | rs869312860 |
ClinGen | rs869312860 |
ebi | rs869312860 |
HLI | rs869312860 |
Exac | rs869312860 |
Gnomad | rs869312860 |
Varsome | rs869312860 |
LitVar | rs869312860 |
Map | rs869312860 |
PheGenI | rs869312860 |
Biobank | rs869312860 |
1000 genomes | rs869312860 |
hgdp | rs869312860 |
ensembl | rs869312860 |
geneview | rs869312860 |
scholar | rs869312860 |
rs869312860 | |
pharmgkb | rs869312860 |
gwascentral | rs869312860 |
openSNP | rs869312860 |
23andMe | rs869312860 |
SNPshot | rs869312860 |
SNPdbe | rs869312860 |
MSV3d | rs869312860 |
GWAS Ctlg | rs869312860 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312860(G;G) |
Alt | rs869312860(G;G) |
Reference | Rs869312860(A;A) |
Significance | Probable-Pathogenic |
Disease | CONGENITAL DISORDER OF GLYCOSYLATION |
Variation | info |
Gene | SLC35A2 |
CLNDBN | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
Reversed | 1 |
HGVS | NC_000023.10:g.48762386T>C |
CLNSRC | |
CLNACC | RCV000210405.1, |