rs397509412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397509412(A;A) |
Make rs397509412(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 102032419 |
Gene | DYNC1H1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509412 |
dbSNP (classic) | rs397509412 |
ClinGen | rs397509412 |
ebi | rs397509412 |
HLI | rs397509412 |
Exac | rs397509412 |
Gnomad | rs397509412 |
Varsome | rs397509412 |
LitVar | rs397509412 |
Map | rs397509412 |
PheGenI | rs397509412 |
Biobank | rs397509412 |
1000 genomes | rs397509412 |
hgdp | rs397509412 |
ensembl | rs397509412 |
geneview | rs397509412 |
scholar | rs397509412 |
rs397509412 | |
pharmgkb | rs397509412 |
gwascentral | rs397509412 |
openSNP | rs397509412 |
23andMe | rs397509412 |
SNPshot | rs397509412 |
SNPdbe | rs397509412 |
MSV3d | rs397509412 |
GWAS Ctlg | rs397509412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397509412(A;A) |
Alt | rs397509412(A;A) |
Reference | Rs397509412(G;G) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | Mental retardation, autosomal dominant 13 |
Reversed | 0 |
HGVS | NC_000014.8:g.102498756G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000049272.2, |