rs797045529
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045529(C;C) |
Make rs797045529(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 102038825 |
Gene | DYNC1H1, LOC107984661 |
is a | snp |
is | mentioned by |
dbSNP | rs797045529 |
dbSNP (classic) | rs797045529 |
ClinGen | rs797045529 |
ebi | rs797045529 |
HLI | rs797045529 |
Exac | rs797045529 |
Gnomad | rs797045529 |
Varsome | rs797045529 |
LitVar | rs797045529 |
Map | rs797045529 |
PheGenI | rs797045529 |
Biobank | rs797045529 |
1000 genomes | rs797045529 |
hgdp | rs797045529 |
ensembl | rs797045529 |
geneview | rs797045529 |
scholar | rs797045529 |
rs797045529 | |
pharmgkb | rs797045529 |
gwascentral | rs797045529 |
openSNP | rs797045529 |
23andMe | rs797045529 |
SNPshot | rs797045529 |
SNPdbe | rs797045529 |
MSV3d | rs797045529 |
GWAS Ctlg | rs797045529 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045529(A;A) rs797045529(C;C) |
Alt | rs797045529(A;A) rs797045529(C;C) |
Reference | Rs797045529(G;G) |
Significance | Probable-Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | Mental retardation, autosomal dominant 13 |
Reversed | 0 |
HGVS | NC_000014.8:g.102505162G>C |
CLNSRC | |
CLNACC | RCV000193672.1, |