rs151173406
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151173406(C;T) |
Make rs151173406(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 5078842 |
Gene | ALG1 |
is a | snp |
is | mentioned by |
dbSNP | rs151173406 |
dbSNP (classic) | rs151173406 |
ClinGen | rs151173406 |
ebi | rs151173406 |
HLI | rs151173406 |
Exac | rs151173406 |
Gnomad | rs151173406 |
Varsome | rs151173406 |
LitVar | rs151173406 |
Map | rs151173406 |
PheGenI | rs151173406 |
Biobank | rs151173406 |
1000 genomes | rs151173406 |
hgdp | rs151173406 |
ensembl | rs151173406 |
geneview | rs151173406 |
scholar | rs151173406 |
rs151173406 | |
pharmgkb | rs151173406 |
gwascentral | rs151173406 |
openSNP | rs151173406 |
23andMe | rs151173406 |
SNPshot | rs151173406 |
SNPdbe | rs151173406 |
MSV3d | rs151173406 |
GWAS Ctlg | rs151173406 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151173406(T;T) |
Alt | rs151173406(T;T) |
Reference | Rs151173406(C;C) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1K |
Variation | info |
Gene | ALG1 |
CLNDBN | Congenital disorder of glycosylation type 1K |
Reversed | 0 |
HGVS | NC_000016.9:g.5128843C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023496.4, |