rs879255599
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255599(A;G) |
Make rs879255599(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 18 |
Position | 58366201 |
Gene | NEDD4L |
is a | snp |
is | mentioned by |
dbSNP | rs879255599 |
dbSNP (classic) | rs879255599 |
ClinGen | rs879255599 |
ebi | rs879255599 |
HLI | rs879255599 |
Exac | rs879255599 |
Gnomad | rs879255599 |
Varsome | rs879255599 |
LitVar | rs879255599 |
Map | rs879255599 |
PheGenI | rs879255599 |
Biobank | rs879255599 |
1000 genomes | rs879255599 |
hgdp | rs879255599 |
ensembl | rs879255599 |
geneview | rs879255599 |
scholar | rs879255599 |
rs879255599 | |
pharmgkb | rs879255599 |
gwascentral | rs879255599 |
openSNP | rs879255599 |
23andMe | rs879255599 |
SNPshot | rs879255599 |
SNPdbe | rs879255599 |
MSV3d | rs879255599 |
GWAS Ctlg | rs879255599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255599(G;G) |
Alt | rs879255599(G;G) |
Reference | Rs879255599(A;A) |
Significance | Pathogenic |
Disease | Periventricular nodular heterotopia with syndactyly Periventricular nodular heterotopia 7 |
Variation | info |
Gene | NEDD4L |
CLNDBN | Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay Periventricular nodular heterotopia 7 |
Reversed | 0 |
HGVS | NC_000018.9:g.56033433A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239744.1, RCV000258910.1, |