rs794729645
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
Make rs794729645(-;-) |
Make rs794729645(-;CA) |
Make rs794729645(CA;CA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 137106146 |
Gene | MAN1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs794729645 |
dbSNP (classic) | rs794729645 |
ClinGen | rs794729645 |
ebi | rs794729645 |
HLI | rs794729645 |
Exac | rs794729645 |
Gnomad | rs794729645 |
Varsome | rs794729645 |
LitVar | rs794729645 |
Map | rs794729645 |
PheGenI | rs794729645 |
Biobank | rs794729645 |
1000 genomes | rs794729645 |
hgdp | rs794729645 |
ensembl | rs794729645 |
geneview | rs794729645 |
scholar | rs794729645 |
rs794729645 | |
pharmgkb | rs794729645 |
gwascentral | rs794729645 |
openSNP | rs794729645 |
23andMe | rs794729645 |
SNPshot | rs794729645 |
SNPdbe | rs794729645 |
MSV3d | rs794729645 |
GWAS Ctlg | rs794729645 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729645(-;-) |
Alt | rs794729645(-;-) |
Reference | Rs794729645(AC;AC) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | MAN1B1 |
CLNDBN | Mental retardation, autosomal recessive 15 |
Reversed | 0 |
HGVS | NC_000009.11:g.140000598_140000599delCA |
CLNSRC | |
CLNACC | RCV000185553.2, |