rs398123342
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398123342(-;C) |
Make rs398123342(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 10449573 |
Gene | MID1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123342 |
dbSNP (classic) | rs398123342 |
ClinGen | rs398123342 |
ebi | rs398123342 |
HLI | rs398123342 |
Exac | rs398123342 |
Gnomad | rs398123342 |
Varsome | rs398123342 |
LitVar | rs398123342 |
Map | rs398123342 |
PheGenI | rs398123342 |
Biobank | rs398123342 |
1000 genomes | rs398123342 |
hgdp | rs398123342 |
ensembl | rs398123342 |
geneview | rs398123342 |
scholar | rs398123342 |
rs398123342 | |
pharmgkb | rs398123342 |
gwascentral | rs398123342 |
openSNP | rs398123342 |
23andMe | rs398123342 |
SNPshot | rs398123342 |
SNPdbe | rs398123342 |
MSV3d | rs398123342 |
GWAS Ctlg | rs398123342 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123342(C;C) |
Alt | rs398123342(C;C) |
Reference | Rs398123342(-;-) |
Significance | Pathogenic |
Disease | not provided Opitz-Frias syndrome |
Variation | info |
Gene | MID1 |
CLNDBN | not provided Opitz-Frias syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.10417614dupG |
CLNSRC | HGMD |
CLNACC | RCV000078678.3, RCV000173680.1, |