rs768643552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs768643552(C;C) |
Make rs768643552(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 136418630 |
Gene | PMPCA |
is a | snp |
is | mentioned by |
dbSNP | rs768643552 |
dbSNP (classic) | rs768643552 |
ClinGen | rs768643552 |
ebi | rs768643552 |
HLI | rs768643552 |
Exac | rs768643552 |
Gnomad | rs768643552 |
Varsome | rs768643552 |
LitVar | rs768643552 |
Map | rs768643552 |
PheGenI | rs768643552 |
Biobank | rs768643552 |
1000 genomes | rs768643552 |
hgdp | rs768643552 |
ensembl | rs768643552 |
geneview | rs768643552 |
scholar | rs768643552 |
rs768643552 | |
pharmgkb | rs768643552 |
gwascentral | rs768643552 |
openSNP | rs768643552 |
23andMe | rs768643552 |
SNPshot | rs768643552 |
SNPdbe | rs768643552 |
MSV3d | rs768643552 |
GWAS Ctlg | rs768643552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768643552(A;A) rs768643552(C;C) |
Alt | rs768643552(A;A) rs768643552(C;C) |
Reference | Rs768643552(G;G) |
Significance | Pathogenic |
Disease | Bilateral ptosis Blindness Chronic lactic acidosis Diffuse cerebellar atrophy Failure to thrive Global brain atrophy Hypertrophic cardiomyopathy Hypoventilation Infantile muscular hypotonia Normal pressure hydrocephalus Optic atrophy Restrictive external ophthalmoplegia Severe global developmental delay |
Variation | info |
Gene | PMPCA |
CLNDBN | Bilateral ptosis Blindness Chronic lactic acidosis Diffuse cerebellar atrophy Failure to thrive Global brain atrophy Hypertrophic cardiomyopathy Hypoventilation Infantile muscular hypotonia Normal pressure hydrocephalus Optic atrophy Restrictive external ophthalmoplegia Severe global developmental delay |
Reversed | 0 |
HGVS | NC_000009.11:g.139313082G>A |
CLNSRC | |
CLNACC | RCV000207220.1, |