rs142422525
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142422525(A;A) |
Make rs142422525(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 7558948 |
Gene | PNPLA6 |
is a | snp |
is | mentioned by |
dbSNP | rs142422525 |
dbSNP (classic) | rs142422525 |
ClinGen | rs142422525 |
ebi | rs142422525 |
HLI | rs142422525 |
Exac | rs142422525 |
Gnomad | rs142422525 |
Varsome | rs142422525 |
LitVar | rs142422525 |
Map | rs142422525 |
PheGenI | rs142422525 |
Biobank | rs142422525 |
1000 genomes | rs142422525 |
hgdp | rs142422525 |
ensembl | rs142422525 |
geneview | rs142422525 |
scholar | rs142422525 |
rs142422525 | |
pharmgkb | rs142422525 |
gwascentral | rs142422525 |
openSNP | rs142422525 |
23andMe | rs142422525 |
SNPshot | rs142422525 |
SNPdbe | rs142422525 |
MSV3d | rs142422525 |
GWAS Ctlg | rs142422525 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142422525(A;A) |
Alt | rs142422525(A;A) |
Reference | Rs142422525(G;G) |
Significance | Pathogenic |
Disease | Trichomegaly with mental retardation |
Variation | info |
Gene | PNPLA6 |
CLNDBN | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina |
Reversed | 0 |
HGVS | NC_000019.9:g.7623834G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162353.4, |