rs373562040
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs373562040(C;T) |
Make rs373562040(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 102344566 |
Gene | SLC39A8 |
is a | snp |
is | mentioned by |
dbSNP | rs373562040 |
dbSNP (classic) | rs373562040 |
ClinGen | rs373562040 |
ebi | rs373562040 |
HLI | rs373562040 |
Exac | rs373562040 |
Gnomad | rs373562040 |
Varsome | rs373562040 |
LitVar | rs373562040 |
Map | rs373562040 |
PheGenI | rs373562040 |
Biobank | rs373562040 |
1000 genomes | rs373562040 |
hgdp | rs373562040 |
ensembl | rs373562040 |
geneview | rs373562040 |
scholar | rs373562040 |
rs373562040 | |
pharmgkb | rs373562040 |
gwascentral | rs373562040 |
openSNP | rs373562040 |
23andMe | rs373562040 |
SNPshot | rs373562040 |
SNPdbe | rs373562040 |
MSV3d | rs373562040 |
GWAS Ctlg | rs373562040 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373562040(T;T) |
Alt | rs373562040(T;T) |
Reference | Rs373562040(C;C) |
Significance | Pathogenic |
Disease | CONGENITAL DISORDER OF GLYCOSYLATION SLC39A8 deficiency |
Variation | info |
Gene | SLC39A8 |
CLNDBN | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn SLC39A8 deficiency |
Reversed | 0 |
HGVS | NC_000004.11:g.103265723C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203237.2, RCV000203267.1, |