rs587776961
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587776961(C;T) |
Make rs587776961(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 48904918 |
Gene | SLC35A2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776961 |
dbSNP (classic) | rs587776961 |
ClinGen | rs587776961 |
ebi | rs587776961 |
HLI | rs587776961 |
Exac | rs587776961 |
Gnomad | rs587776961 |
Varsome | rs587776961 |
LitVar | rs587776961 |
Map | rs587776961 |
PheGenI | rs587776961 |
Biobank | rs587776961 |
1000 genomes | rs587776961 |
hgdp | rs587776961 |
ensembl | rs587776961 |
geneview | rs587776961 |
scholar | rs587776961 |
rs587776961 | |
pharmgkb | rs587776961 |
gwascentral | rs587776961 |
openSNP | rs587776961 |
23andMe | rs587776961 |
SNPshot | rs587776961 |
SNPdbe | rs587776961 |
MSV3d | rs587776961 |
GWAS Ctlg | rs587776961 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776961(C;C) rs587776961(T;T) |
Alt | Rs587776961(C;C) rs587776961(T;T) |
Reference | Rs587776961(G;G) |
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.48762195C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000043515.8, |