rs782246853
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs782246853(-;C) |
Make rs782246853(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 47965 |
Gene | TUBB8 |
is a | snp |
is | mentioned by |
dbSNP | rs782246853 |
dbSNP (classic) | rs782246853 |
ClinGen | rs782246853 |
ebi | rs782246853 |
HLI | rs782246853 |
Exac | rs782246853 |
Gnomad | rs782246853 |
Varsome | rs782246853 |
LitVar | rs782246853 |
Map | rs782246853 |
PheGenI | rs782246853 |
Biobank | rs782246853 |
1000 genomes | rs782246853 |
hgdp | rs782246853 |
ensembl | rs782246853 |
geneview | rs782246853 |
scholar | rs782246853 |
rs782246853 | |
pharmgkb | rs782246853 |
gwascentral | rs782246853 |
openSNP | rs782246853 |
23andMe | rs782246853 |
SNPshot | rs782246853 |
SNPdbe | rs782246853 |
MSV3d | rs782246853 |
GWAS Ctlg | rs782246853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782246853(C;C) |
Alt | rs782246853(C;C) |
Reference | Rs782246853(-;-) |
Significance | Pathogenic |
Disease | Oocyte maturation defect 2 |
Variation | info |
Gene | TUBB8 |
CLNDBN | Oocyte maturation defect 2 |
Reversed | 0 |
HGVS | NC_000010.10:g.93906dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000428882.1, |