rs764880181
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs764880181(-;-) |
Make rs764880181(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 169140515 |
Gene | LRP2 |
is a | snp |
is | mentioned by |
dbSNP | rs764880181 |
dbSNP (classic) | rs764880181 |
ClinGen | rs764880181 |
ebi | rs764880181 |
HLI | rs764880181 |
Exac | rs764880181 |
Gnomad | rs764880181 |
Varsome | rs764880181 |
LitVar | rs764880181 |
Map | rs764880181 |
PheGenI | rs764880181 |
Biobank | rs764880181 |
1000 genomes | rs764880181 |
hgdp | rs764880181 |
ensembl | rs764880181 |
geneview | rs764880181 |
scholar | rs764880181 |
rs764880181 | |
pharmgkb | rs764880181 |
gwascentral | rs764880181 |
openSNP | rs764880181 |
23andMe | rs764880181 |
SNPshot | rs764880181 |
SNPdbe | rs764880181 |
MSV3d | rs764880181 |
GWAS Ctlg | rs764880181 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764880181(-;-) |
Alt | rs764880181(-;-) |
Reference | Rs764880181(G;G) |
Significance | Probable-Pathogenic |
Disease | Donnai Barrow syndrome |
Variation | info |
Gene | LRP2 |
CLNDBN | Donnai Barrow syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.169997025delG |
CLNSRC | |
CLNACC | RCV000192936.1, |