rs143141689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs143141689(C;T) |
Make rs143141689(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 52397773 |
Gene | ORC1 |
is a | snp |
is | mentioned by |
dbSNP | rs143141689 |
dbSNP (classic) | rs143141689 |
ClinGen | rs143141689 |
ebi | rs143141689 |
HLI | rs143141689 |
Exac | rs143141689 |
Gnomad | rs143141689 |
Varsome | rs143141689 |
LitVar | rs143141689 |
Map | rs143141689 |
PheGenI | rs143141689 |
Biobank | rs143141689 |
1000 genomes | rs143141689 |
hgdp | rs143141689 |
ensembl | rs143141689 |
geneview | rs143141689 |
scholar | rs143141689 |
rs143141689 | |
pharmgkb | rs143141689 |
gwascentral | rs143141689 |
openSNP | rs143141689 |
23andMe | rs143141689 |
SNPshot | rs143141689 |
SNPdbe | rs143141689 |
MSV3d | rs143141689 |
GWAS Ctlg | rs143141689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143141689(T;T) |
Alt | rs143141689(T;T) |
Reference | Rs143141689(C;C) |
Significance | Pathogenic |
Disease | Meier-Gorlin syndrome 1 Meier-Gorlin syndrome |
Variation | info |
Gene | ORC1 |
CLNDBN | Meier-Gorlin syndrome 1 Meier-Gorlin syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.52863445C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023156.3, RCV000302017.1, |