rs1085308061
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 18 |
Position | 45910719 |
Gene | EPG5 |
is a | snp |
is | mentioned by |
dbSNP | rs1085308061 |
dbSNP (classic) | rs1085308061 |
ClinGen | rs1085308061 |
ebi | rs1085308061 |
HLI | rs1085308061 |
Exac | rs1085308061 |
Gnomad | rs1085308061 |
Varsome | rs1085308061 |
LitVar | rs1085308061 |
Map | rs1085308061 |
PheGenI | rs1085308061 |
Biobank | rs1085308061 |
1000 genomes | rs1085308061 |
hgdp | rs1085308061 |
ensembl | rs1085308061 |
geneview | rs1085308061 |
scholar | rs1085308061 |
rs1085308061 | |
pharmgkb | rs1085308061 |
gwascentral | rs1085308061 |
openSNP | rs1085308061 |
23andMe | rs1085308061 |
SNPshot | rs1085308061 |
SNPdbe | rs1085308061 |
MSV3d | rs1085308061 |
GWAS Ctlg | rs1085308061 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085308061(A;A) |
Alt | rs1085308061(A;A) |
Reference | Rs1085308061(G;G) |
Significance | Pathogenic |
Disease | Absent corpus callosum cataract immunodeficiency |
Variation | info |
Gene | EPG5 |
CLNDBN | Absent corpus callosum cataract immunodeficiency |
Reversed | 1 |
HGVS | NC_000018.9:g.43490684C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000490629.1, |