rs267606926
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267606926(C;C) |
Make rs267606926(C;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 5 |
Position | 69509746 |
Gene | OCLN |
is a | snp |
is | mentioned by |
dbSNP | rs267606926 |
dbSNP (classic) | rs267606926 |
ClinGen | rs267606926 |
ebi | rs267606926 |
HLI | rs267606926 |
Exac | rs267606926 |
Gnomad | rs267606926 |
Varsome | rs267606926 |
LitVar | rs267606926 |
Map | rs267606926 |
PheGenI | rs267606926 |
Biobank | rs267606926 |
1000 genomes | rs267606926 |
hgdp | rs267606926 |
ensembl | rs267606926 |
geneview | rs267606926 |
scholar | rs267606926 |
rs267606926 | |
pharmgkb | rs267606926 |
gwascentral | rs267606926 |
openSNP | rs267606926 |
23andMe | rs267606926 |
SNPshot | rs267606926 |
SNPdbe | rs267606926 |
MSV3d | rs267606926 |
GWAS Ctlg | rs267606926 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606926(C;C) |
Alt | rs267606926(C;C) |
Reference | Rs267606926(T;T) |
Significance | Pathogenic |
Disease | Band-like calcification with simplified gyration and polymicrogyria |
Variation | info |
Gene | OCLN |
CLNDBN | Band-like calcification with simplified gyration and polymicrogyria |
Reversed | 0 |
HGVS | NC_000005.9:g.68805573T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007144.4, |