rs1057520306
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057520306(C;T) |
Make rs1057520306(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 47679 |
Gene | TUBB8 |
is a | snp |
is | mentioned by |
dbSNP | rs1057520306 |
dbSNP (classic) | rs1057520306 |
ClinGen | rs1057520306 |
ebi | rs1057520306 |
HLI | rs1057520306 |
Exac | rs1057520306 |
Gnomad | rs1057520306 |
Varsome | rs1057520306 |
LitVar | rs1057520306 |
Map | rs1057520306 |
PheGenI | rs1057520306 |
Biobank | rs1057520306 |
1000 genomes | rs1057520306 |
hgdp | rs1057520306 |
ensembl | rs1057520306 |
geneview | rs1057520306 |
scholar | rs1057520306 |
rs1057520306 | |
pharmgkb | rs1057520306 |
gwascentral | rs1057520306 |
openSNP | rs1057520306 |
23andMe | rs1057520306 |
SNPshot | rs1057520306 |
SNPdbe | rs1057520306 |
MSV3d | rs1057520306 |
GWAS Ctlg | rs1057520306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057520306(T;T) |
Alt | rs1057520306(T;T) |
Reference | Rs1057520306(C;C) |
Significance | Pathogenic |
Disease | Oocyte maturation defect 2 |
Variation | info |
Gene | TUBB8 |
CLNDBN | Oocyte maturation defect 2 |
Reversed | 1 |
HGVS | NC_000010.10:g.93619G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000439790.1, |