rs104894866
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894866(C;C) |
Make rs104894866(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 10482609 |
Gene | MID1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894866 |
dbSNP (classic) | rs104894866 |
ClinGen | rs104894866 |
ebi | rs104894866 |
HLI | rs104894866 |
Exac | rs104894866 |
Gnomad | rs104894866 |
Varsome | rs104894866 |
LitVar | rs104894866 |
Map | rs104894866 |
PheGenI | rs104894866 |
Biobank | rs104894866 |
1000 genomes | rs104894866 |
hgdp | rs104894866 |
ensembl | rs104894866 |
geneview | rs104894866 |
scholar | rs104894866 |
rs104894866 | |
pharmgkb | rs104894866 |
gwascentral | rs104894866 |
openSNP | rs104894866 |
23andMe | rs104894866 |
SNPshot | rs104894866 |
SNPdbe | rs104894866 |
MSV3d | rs104894866 |
GWAS Ctlg | rs104894866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894866(C;C) |
Alt | rs104894866(C;C) |
Reference | Rs104894866(T;T) |
Significance | Pathogenic |
Disease | Opitz-Frias syndrome |
Variation | info |
Gene | MID1 |
CLNDBN | Opitz-Frias syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.10450649A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011558.2, |