rs35383149
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 0.5 | likely to be benign |
Make rs35383149(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 63406361 |
Gene | ALG6 |
is a | snp |
is | mentioned by |
dbSNP | rs35383149 |
dbSNP (classic) | rs35383149 |
ClinGen | rs35383149 |
ebi | rs35383149 |
HLI | rs35383149 |
Exac | rs35383149 |
Gnomad | rs35383149 |
Varsome | rs35383149 |
LitVar | rs35383149 |
Map | rs35383149 |
PheGenI | rs35383149 |
Biobank | rs35383149 |
1000 genomes | rs35383149 |
hgdp | rs35383149 |
ensembl | rs35383149 |
geneview | rs35383149 |
scholar | rs35383149 |
rs35383149 | |
pharmgkb | rs35383149 |
gwascentral | rs35383149 |
openSNP | rs35383149 |
23andMe | rs35383149 |
SNPshot | rs35383149 |
SNPdbe | rs35383149 |
MSV3d | rs35383149 |
GWAS Ctlg | rs35383149 |
GMAF | 0.01791 |
Max Magnitude | 0.5 |
ClinVar | |
---|---|
Risk | rs35383149(G;G) |
Alt | rs35383149(G;G) |
Reference | Rs35383149(A;A) |
Significance | Other |
Disease | Congenital disorder of glycosylation type 1C not specified |
Variation | info |
Gene | ALG6 |
CLNDBN | Congenital disorder of glycosylation type 1C not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.63872032T>C |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000023375.4, RCV000081558.10, |