rs587777434
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TA;TA) | 0 | common in clinvar |
Make rs587777434(-;-) |
Make rs587777434(-;TA) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 48905475 |
Gene | SLC35A2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777434 |
dbSNP (classic) | rs587777434 |
ClinGen | rs587777434 |
ebi | rs587777434 |
HLI | rs587777434 |
Exac | rs587777434 |
Gnomad | rs587777434 |
Varsome | rs587777434 |
LitVar | rs587777434 |
Map | rs587777434 |
PheGenI | rs587777434 |
Biobank | rs587777434 |
1000 genomes | rs587777434 |
hgdp | rs587777434 |
ensembl | rs587777434 |
geneview | rs587777434 |
scholar | rs587777434 |
rs587777434 | |
pharmgkb | rs587777434 |
gwascentral | rs587777434 |
openSNP | rs587777434 |
23andMe | rs587777434 |
SNPshot | rs587777434 |
SNPdbe | rs587777434 |
MSV3d | rs587777434 |
GWAS Ctlg | rs587777434 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777434(-;-) |
Alt | rs587777434(-;-) |
Reference | Rs587777434(TA;TA) |
Significance | Pathogenic |
Disease | CONGENITAL DISORDER OF GLYCOSYLATION |
Variation | info |
Gene | SLC35A2 |
CLNDBN | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
Reversed | 1 |
HGVS | NC_000023.10:g.48762752_48762753delTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000122744.3, |