rs587777362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCATTTTC;CCATTTTC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TTTTCCCA;TTTTCCCA) | 0 | common in clinvar |
Make rs587777362(-;-) |
Make rs587777362(-;TTTTCCCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 60873218 |
Gene | ZP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777362 |
dbSNP (classic) | rs587777362 |
ClinGen | rs587777362 |
ebi | rs587777362 |
HLI | rs587777362 |
Exac | rs587777362 |
Gnomad | rs587777362 |
Varsome | rs587777362 |
LitVar | rs587777362 |
Map | rs587777362 |
PheGenI | rs587777362 |
Biobank | rs587777362 |
1000 genomes | rs587777362 |
hgdp | rs587777362 |
ensembl | rs587777362 |
geneview | rs587777362 |
scholar | rs587777362 |
rs587777362 | |
pharmgkb | rs587777362 |
gwascentral | rs587777362 |
openSNP | rs587777362 |
23andMe | rs587777362 |
SNPshot | rs587777362 |
SNPdbe | rs587777362 |
MSV3d | rs587777362 |
GWAS Ctlg | rs587777362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777362(-;-) Rs587777362(CCATTTTC;CCATTTTC) |
Alt | rs587777362(-;-) Rs587777362(CCATTTTC;CCATTTTC) |
Reference | Rs587777362(TTTTCCCA;TTTTCCCA) |
Significance | Pathogenic |
Disease | Oocyte maturation defect 1 |
Variation | info |
Gene | ZP1 |
CLNDBN | Oocyte maturation defect 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.60640691_60640698delTTTTCCCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000115029.3, |