rs397509410
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397509410(G;T) |
Make rs397509410(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 102032396 |
Gene | DYNC1H1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509410 |
dbSNP (classic) | rs397509410 |
ClinGen | rs397509410 |
ebi | rs397509410 |
HLI | rs397509410 |
Exac | rs397509410 |
Gnomad | rs397509410 |
Varsome | rs397509410 |
LitVar | rs397509410 |
Map | rs397509410 |
PheGenI | rs397509410 |
Biobank | rs397509410 |
1000 genomes | rs397509410 |
hgdp | rs397509410 |
ensembl | rs397509410 |
geneview | rs397509410 |
scholar | rs397509410 |
rs397509410 | |
pharmgkb | rs397509410 |
gwascentral | rs397509410 |
openSNP | rs397509410 |
23andMe | rs397509410 |
SNPshot | rs397509410 |
SNPdbe | rs397509410 |
MSV3d | rs397509410 |
GWAS Ctlg | rs397509410 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397509410(T;T) |
Alt | rs397509410(T;T) |
Reference | Rs397509410(G;G) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | Mental retardation, autosomal dominant 13 |
Reversed | 0 |
HGVS | NC_000014.8:g.102498733G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000049270.2, |