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rs768643552

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs768643552(C;C)
Make rs768643552(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136418630
GenePMPCA
is asnp
is mentioned by
dbSNPrs768643552
ebirs768643552
HLIrs768643552
Exacrs768643552
Varsomers768643552
Maprs768643552
PheGenIrs768643552
hapmaprs768643552
1000 genomesrs768643552
hgdprs768643552
ensemblrs768643552
gopubmedrs768643552
geneviewrs768643552
scholarrs768643552
googlers768643552
pharmgkbrs768643552
gwascentralrs768643552
openSNPrs768643552
23andMers768643552
23andMe allrs768643552
SNP Nexus

SNPshotrs768643552
SNPdbers768643552
MSV3drs768643552
GWAS Ctlgrs768643552
Max Magnitude0
ClinVar
Risk rs768643552(C;C)
Alt 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,