rs531047390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs531047390(A;G) |
Make rs531047390(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 78968349 |
Gene | NRXN3 |
is a | snp |
is | mentioned by |
dbSNP | rs531047390 |
dbSNP (classic) | rs531047390 |
ClinGen | rs531047390 |
ebi | rs531047390 |
HLI | rs531047390 |
Exac | rs531047390 |
Gnomad | rs531047390 |
Varsome | rs531047390 |
LitVar | rs531047390 |
Map | rs531047390 |
PheGenI | rs531047390 |
Biobank | rs531047390 |
1000 genomes | rs531047390 |
hgdp | rs531047390 |
ensembl | rs531047390 |
geneview | rs531047390 |
scholar | rs531047390 |
rs531047390 | |
pharmgkb | rs531047390 |
gwascentral | rs531047390 |
openSNP | rs531047390 |
23andMe | rs531047390 |
SNPshot | rs531047390 |
SNPdbe | rs531047390 |
MSV3d | rs531047390 |
GWAS Ctlg | rs531047390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs531047390(G;G) |
Alt | rs531047390(G;G) |
Reference | Rs531047390(A;A) |
Significance | Pathogenic |
Disease | Relative macrocephaly Short stature |
Variation | info |
Gene | NRXN3 |
CLNDBN | Relative macrocephaly Short stature |
Reversed | 0 |
HGVS | NC_000014.8:g.79434692A>G |
CLNSRC | |
CLNACC | RCV000416453.1, |