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rs753611141

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs753611141(G;T)
Make rs753611141(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136418847
GenePMPCA
is asnp
is mentioned by
dbSNPrs753611141
ebirs753611141
HLIrs753611141
Exacrs753611141
Varsomers753611141
Maprs753611141
PheGenIrs753611141
hapmaprs753611141
1000 genomesrs753611141
hgdprs753611141
ensemblrs753611141
gopubmedrs753611141
geneviewrs753611141
scholarrs753611141
googlers753611141
pharmgkbrs753611141
gwascentralrs753611141
openSNPrs753611141
23andMers753611141
23andMe allrs753611141
SNP Nexus

SNPshotrs753611141
SNPdbers753611141
MSV3drs753611141
GWAS Ctlgrs753611141
Max Magnitude0
ClinVar
Risk rs753611141(T;T)
Alt rs753611141(T;T)
Reference rs753611141(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 Spinocerebellar ataxia
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 Spinocerebellar ataxia, autosomal recessive 2
Reversed 0
HGVS NC_000009.11:g.139313299G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207133.1, RCV000207168.2,