rs119103236
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs119103236(A;A) |
Make rs119103236(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 184245291 |
Gene | ALG3 |
is a | snp |
is | mentioned by |
dbSNP | rs119103236 |
dbSNP (classic) | rs119103236 |
ClinGen | rs119103236 |
ebi | rs119103236 |
HLI | rs119103236 |
Exac | rs119103236 |
Gnomad | rs119103236 |
Varsome | rs119103236 |
LitVar | rs119103236 |
Map | rs119103236 |
PheGenI | rs119103236 |
Biobank | rs119103236 |
1000 genomes | rs119103236 |
hgdp | rs119103236 |
ensembl | rs119103236 |
geneview | rs119103236 |
scholar | rs119103236 |
rs119103236 | |
pharmgkb | rs119103236 |
gwascentral | rs119103236 |
openSNP | rs119103236 |
23andMe | rs119103236 |
SNPshot | rs119103236 |
SNPdbe | rs119103236 |
MSV3d | rs119103236 |
GWAS Ctlg | rs119103236 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103236(A;A) rs119103236(T;T) |
Alt | rs119103236(A;A) rs119103236(T;T) |
Reference | Rs119103236(G;G) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1D |
Variation | info |
Gene | ALG3 |
CLNDBN | Congenital disorder of glycosylation type 1D |
Reversed | 1 |
HGVS | NC_000003.11:g.183963079C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002211.4, |