rs797044786
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044786(-;AACA) |
Make rs797044786(AACA;AACA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 10459645 |
Gene | MID1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044786 |
dbSNP (classic) | rs797044786 |
ClinGen | rs797044786 |
ebi | rs797044786 |
HLI | rs797044786 |
Exac | rs797044786 |
Gnomad | rs797044786 |
Varsome | rs797044786 |
LitVar | rs797044786 |
Map | rs797044786 |
PheGenI | rs797044786 |
Biobank | rs797044786 |
1000 genomes | rs797044786 |
hgdp | rs797044786 |
ensembl | rs797044786 |
geneview | rs797044786 |
scholar | rs797044786 |
rs797044786 | |
pharmgkb | rs797044786 |
gwascentral | rs797044786 |
openSNP | rs797044786 |
23andMe | rs797044786 |
SNPshot | rs797044786 |
SNPdbe | rs797044786 |
MSV3d | rs797044786 |
GWAS Ctlg | rs797044786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044786(AACA;AACA) |
Alt | rs797044786(AACA;AACA) |
Reference | Rs797044786(-;-) |
Significance | Pathogenic |
Disease | Opitz-Frias syndrome |
Variation | info |
Gene | MID1 |
CLNDBN | Opitz-Frias syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.10427685_10427686insTGTT |
CLNSRC | |
CLNACC | RCV000180149.1, |