rs267606922
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606922(C;G) |
Make rs267606922(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 50496039 |
Gene | NRXN1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606922 |
dbSNP (classic) | rs267606922 |
ClinGen | rs267606922 |
ebi | rs267606922 |
HLI | rs267606922 |
Exac | rs267606922 |
Gnomad | rs267606922 |
Varsome | rs267606922 |
LitVar | rs267606922 |
Map | rs267606922 |
PheGenI | rs267606922 |
Biobank | rs267606922 |
1000 genomes | rs267606922 |
hgdp | rs267606922 |
ensembl | rs267606922 |
geneview | rs267606922 |
scholar | rs267606922 |
rs267606922 | |
pharmgkb | rs267606922 |
gwascentral | rs267606922 |
openSNP | rs267606922 |
23andMe | rs267606922 |
SNPshot | rs267606922 |
SNPdbe | rs267606922 |
MSV3d | rs267606922 |
GWAS Ctlg | rs267606922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606922(G;G) |
Alt | rs267606922(G;G) |
Reference | Rs267606922(C;C) |
Significance | Pathogenic |
Disease | Pitt-Hopkins-like syndrome 2 |
Variation | info |
Gene | NRXN1 |
CLNDBN | Pitt-Hopkins-like syndrome 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.50723177G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009608.4, |