rs137852715
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGACGGCACCAGG;AGACGGCACCAGG) | 0 | common in clinvar |
(GGCACCAGGAGAC;GGCACCAGGAGAC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs137852715(-;-) |
Make rs137852715(-;GGCACCAGGAGAC) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 137757923 |
Gene | EHMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852715 |
dbSNP (classic) | rs137852715 |
ClinGen | rs137852715 |
ebi | rs137852715 |
HLI | rs137852715 |
Exac | rs137852715 |
Gnomad | rs137852715 |
Varsome | rs137852715 |
LitVar | rs137852715 |
Map | rs137852715 |
PheGenI | rs137852715 |
Biobank | rs137852715 |
1000 genomes | rs137852715 |
hgdp | rs137852715 |
ensembl | rs137852715 |
geneview | rs137852715 |
scholar | rs137852715 |
rs137852715 | |
pharmgkb | rs137852715 |
gwascentral | rs137852715 |
openSNP | rs137852715 |
23andMe | rs137852715 |
SNPshot | rs137852715 |
SNPdbe | rs137852715 |
MSV3d | rs137852715 |
GWAS Ctlg | rs137852715 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852715(-;-) |
Alt | rs137852715(-;-) |
Reference | Rs137852715(AGACGGCACCAGG;AGACGGCACCAGG) |
Significance | Pathogenic |
Disease | Chromosome 9q deletion syndrome |
Variation | info |
Gene | EHMT1 |
CLNDBN | Chromosome 9q deletion syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.140652375_140652387delGGCACCAGGAGAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003790.4, |