rs797045737
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAGCCCCCGGGCCACA;GGAGCCCCCGGGCCACA) | 0 | common in clinvar |
Make rs797045737(-;-) |
Make rs797045737(-;GAGCCCCCGGGCCACAG) |
Make rs797045737(GAGCCCCCGGGCCACAG;GAGCCCCCGGGCCACAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 13081681 |
Gene | NFIX |
is a | snp |
is | mentioned by |
dbSNP | rs797045737 |
dbSNP (classic) | rs797045737 |
ClinGen | rs797045737 |
ebi | rs797045737 |
HLI | rs797045737 |
Exac | rs797045737 |
Gnomad | rs797045737 |
Varsome | rs797045737 |
LitVar | rs797045737 |
Map | rs797045737 |
PheGenI | rs797045737 |
Biobank | rs797045737 |
1000 genomes | rs797045737 |
hgdp | rs797045737 |
ensembl | rs797045737 |
geneview | rs797045737 |
scholar | rs797045737 |
rs797045737 | |
pharmgkb | rs797045737 |
gwascentral | rs797045737 |
openSNP | rs797045737 |
23andMe | rs797045737 |
SNPshot | rs797045737 |
SNPdbe | rs797045737 |
MSV3d | rs797045737 |
GWAS Ctlg | rs797045737 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045737(-;-) |
Alt | rs797045737(-;-) |
Reference | Rs797045737(GGAGCCCCCGGGCCACA;GGAGCCCCCGGGCCACA) |
Significance | Pathogenic |
Disease | Marshall-Smith syndrome |
Variation | info |
Gene | NFIX |
CLNDBN | Marshall-Smith syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.13192495_13192511del17 |
CLNSRC | |
CLNACC | RCV000192696.1, |