rs398122873
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122873(-;-) |
Make rs398122873(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 13081844 |
Gene | NFIX |
is a | snp |
is | mentioned by |
dbSNP | rs398122873 |
dbSNP (classic) | rs398122873 |
ClinGen | rs398122873 |
ebi | rs398122873 |
HLI | rs398122873 |
Exac | rs398122873 |
Gnomad | rs398122873 |
Varsome | rs398122873 |
LitVar | rs398122873 |
Map | rs398122873 |
PheGenI | rs398122873 |
Biobank | rs398122873 |
1000 genomes | rs398122873 |
hgdp | rs398122873 |
ensembl | rs398122873 |
geneview | rs398122873 |
scholar | rs398122873 |
rs398122873 | |
pharmgkb | rs398122873 |
gwascentral | rs398122873 |
openSNP | rs398122873 |
23andMe | rs398122873 |
SNPshot | rs398122873 |
SNPdbe | rs398122873 |
MSV3d | rs398122873 |
GWAS Ctlg | rs398122873 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122873(-;-) |
Alt | rs398122873(-;-) |
Reference | Rs398122873(G;G) |
Significance | Pathogenic |
Disease | Marshall-Smith syndrome |
Variation | info |
Gene | NFIX |
CLNDBN | Marshall-Smith syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.13192658delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030641.25, |