rs397509393
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397509393(C;C) |
Make rs397509393(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 10154604 |
Gene | DNMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509393 |
dbSNP (classic) | rs397509393 |
ClinGen | rs397509393 |
ebi | rs397509393 |
HLI | rs397509393 |
Exac | rs397509393 |
Gnomad | rs397509393 |
Varsome | rs397509393 |
LitVar | rs397509393 |
Map | rs397509393 |
PheGenI | rs397509393 |
Biobank | rs397509393 |
1000 genomes | rs397509393 |
hgdp | rs397509393 |
ensembl | rs397509393 |
geneview | rs397509393 |
scholar | rs397509393 |
rs397509393 | |
pharmgkb | rs397509393 |
gwascentral | rs397509393 |
openSNP | rs397509393 |
23andMe | rs397509393 |
SNPshot | rs397509393 |
SNPdbe | rs397509393 |
MSV3d | rs397509393 |
GWAS Ctlg | rs397509393 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397509393(C;C) |
Alt | rs397509393(C;C) |
Reference | Rs397509393(G;G) |
Significance | Pathogenic |
Disease | Cerebellar ataxia |
Variation | info |
Gene | DNMT1 |
CLNDBN | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant |
Reversed | 1 |
HGVS | NC_000019.9:g.10265280C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043633.28, |