rs387906739
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906739(A;C) |
Make rs387906739(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 102039416 |
Gene | DYNC1H1, LOC107984661 |
is a | snp |
is | mentioned by |
dbSNP | rs387906739 |
dbSNP (classic) | rs387906739 |
ClinGen | rs387906739 |
ebi | rs387906739 |
HLI | rs387906739 |
Exac | rs387906739 |
Gnomad | rs387906739 |
Varsome | rs387906739 |
LitVar | rs387906739 |
Map | rs387906739 |
PheGenI | rs387906739 |
Biobank | rs387906739 |
1000 genomes | rs387906739 |
hgdp | rs387906739 |
ensembl | rs387906739 |
geneview | rs387906739 |
scholar | rs387906739 |
rs387906739 | |
pharmgkb | rs387906739 |
gwascentral | rs387906739 |
openSNP | rs387906739 |
23andMe | rs387906739 |
SNPshot | rs387906739 |
SNPdbe | rs387906739 |
MSV3d | rs387906739 |
GWAS Ctlg | rs387906739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906739(C;C) |
Alt | rs387906739(C;C) |
Reference | Rs387906739(A;A) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | Mental retardation, autosomal dominant 13 |
Reversed | 0 |
HGVS | NC_000014.8:g.102505753A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022930.3, |