rs886042846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Chromosome | 2 |
Position | 50465563 |
Gene | NRXN1 |
is a | snp |
is | mentioned by |
dbSNP | rs886042846 |
dbSNP (classic) | rs886042846 |
ClinGen | rs886042846 |
ebi | rs886042846 |
HLI | rs886042846 |
Exac | rs886042846 |
Gnomad | rs886042846 |
Varsome | rs886042846 |
LitVar | rs886042846 |
Map | rs886042846 |
PheGenI | rs886042846 |
Biobank | rs886042846 |
1000 genomes | rs886042846 |
hgdp | rs886042846 |
ensembl | rs886042846 |
geneview | rs886042846 |
scholar | rs886042846 |
rs886042846 | |
pharmgkb | rs886042846 |
gwascentral | rs886042846 |
openSNP | rs886042846 |
23andMe | rs886042846 |
SNPshot | rs886042846 |
SNPdbe | rs886042846 |
MSV3d | rs886042846 |
GWAS Ctlg | rs886042846 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042846(C;C) |
Alt | rs886042846(C;C) |
Reference | Rs886042846(T;T) |
Significance | Pathogenic |
Disease | Pitt-Hopkins-like syndrome 2 |
Variation | info |
Gene | NRXN1 |
CLNDBN | Pitt-Hopkins-like syndrome 2 |
Reversed | 0 |
HGVS | NC_000002.11:g.50692701T>C |
CLNSRC | |
CLNACC | RCV000397801.1, |