rs398124419
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398124419(-;-) |
Make rs398124419(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 17793360 |
Gene | RAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124419 |
dbSNP (classic) | rs398124419 |
ClinGen | rs398124419 |
ebi | rs398124419 |
HLI | rs398124419 |
Exac | rs398124419 |
Gnomad | rs398124419 |
Varsome | rs398124419 |
LitVar | rs398124419 |
Map | rs398124419 |
PheGenI | rs398124419 |
Biobank | rs398124419 |
1000 genomes | rs398124419 |
hgdp | rs398124419 |
ensembl | rs398124419 |
geneview | rs398124419 |
scholar | rs398124419 |
rs398124419 | |
pharmgkb | rs398124419 |
gwascentral | rs398124419 |
openSNP | rs398124419 |
23andMe | rs398124419 |
SNPshot | rs398124419 |
SNPdbe | rs398124419 |
MSV3d | rs398124419 |
GWAS Ctlg | rs398124419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124419(-;-) |
Alt | rs398124419(-;-) |
Reference | Rs398124419(G;G) |
Significance | Pathogenic |
Disease | not provided Smith-Magenis syndrome |
Variation | info |
Gene | RAI1 |
CLNDBN | not provided Smith-Magenis syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.17696674delG |
CLNSRC | ClinVar |
CLNACC | RCV000082267.4, RCV000351208.1, |