rs145189179
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145189179(A;A) |
Make rs145189179(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 168045209 |
Gene | DCAF6 |
is a | snp |
is | mentioned by |
dbSNP | rs145189179 |
dbSNP (classic) | rs145189179 |
ClinGen | rs145189179 |
ebi | rs145189179 |
HLI | rs145189179 |
Exac | rs145189179 |
Gnomad | rs145189179 |
Varsome | rs145189179 |
LitVar | rs145189179 |
Map | rs145189179 |
PheGenI | rs145189179 |
Biobank | rs145189179 |
1000 genomes | rs145189179 |
hgdp | rs145189179 |
ensembl | rs145189179 |
geneview | rs145189179 |
scholar | rs145189179 |
rs145189179 | |
pharmgkb | rs145189179 |
gwascentral | rs145189179 |
openSNP | rs145189179 |
23andMe | rs145189179 |
SNPshot | rs145189179 |
SNPdbe | rs145189179 |
MSV3d | rs145189179 |
GWAS Ctlg | rs145189179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145189179(A;A) |
Alt | rs145189179(A;A) |
Reference | Rs145189179(G;G) |
Significance | Probable-Pathogenic |
Disease | Cerebral visual impairment and intellectual disability |
Variation | info |
Gene | DCAF6 |
CLNDBN | Cerebral visual impairment and intellectual disability |
Reversed | 0 |
HGVS | NC_000001.10:g.168014447G>A |
CLNSRC | |
CLNACC | RCV000210411.1, |