rs768643552

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
google	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,