rs797045177
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045177(A;A) |
Make rs797045177(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 101980515 |
Gene | DYNC1H1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045177 |
dbSNP (classic) | rs797045177 |
ClinGen | rs797045177 |
ebi | rs797045177 |
HLI | rs797045177 |
Exac | rs797045177 |
Gnomad | rs797045177 |
Varsome | rs797045177 |
LitVar | rs797045177 |
Map | rs797045177 |
PheGenI | rs797045177 |
Biobank | rs797045177 |
1000 genomes | rs797045177 |
hgdp | rs797045177 |
ensembl | rs797045177 |
geneview | rs797045177 |
scholar | rs797045177 |
rs797045177 | |
pharmgkb | rs797045177 |
gwascentral | rs797045177 |
openSNP | rs797045177 |
23andMe | rs797045177 |
SNPshot | rs797045177 |
SNPdbe | rs797045177 |
MSV3d | rs797045177 |
GWAS Ctlg | rs797045177 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045177(A;A) |
Alt | rs797045177(A;A) |
Reference | Rs797045177(G;G) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | Mental retardation, autosomal dominant 13 not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.102446852G>A |
CLNSRC | |
CLNACC | RCV000191045.1, RCV000236582.1, |