rs1060505058
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060505058(G;T) |
Make rs1060505058(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 118829093 |
Gene | MCM9 |
is a | snp |
is | mentioned by |
dbSNP | rs1060505058 |
dbSNP (classic) | rs1060505058 |
ClinGen | rs1060505058 |
ebi | rs1060505058 |
HLI | rs1060505058 |
Exac | rs1060505058 |
Gnomad | rs1060505058 |
Varsome | rs1060505058 |
LitVar | rs1060505058 |
Map | rs1060505058 |
PheGenI | rs1060505058 |
Biobank | rs1060505058 |
1000 genomes | rs1060505058 |
hgdp | rs1060505058 |
ensembl | rs1060505058 |
geneview | rs1060505058 |
scholar | rs1060505058 |
rs1060505058 | |
pharmgkb | rs1060505058 |
gwascentral | rs1060505058 |
openSNP | rs1060505058 |
23andMe | rs1060505058 |
SNPshot | rs1060505058 |
SNPdbe | rs1060505058 |
MSV3d | rs1060505058 |
GWAS Ctlg | rs1060505058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060505058(T;T) |
Alt | rs1060505058(T;T) |
Reference | Rs1060505058(G;G) |
Significance | Pathogenic |
Disease | Ovarian dysgenesis 4 |
Variation | info |
Gene | MCM9 |
CLNDBN | Ovarian dysgenesis 4 |
Reversed | 1 |
HGVS | NC_000006.11:g.119150256C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477968.2, |