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rs386834032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834032(C;G)
Make rs386834032(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194902
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834032
ebirs386834032
HLIrs386834032
Exacrs386834032
Varsomers386834032
Maprs386834032
PheGenIrs386834032
hapmaprs386834032
1000 genomesrs386834032
hgdprs386834032
ensemblrs386834032
gopubmedrs386834032
geneviewrs386834032
scholarrs386834032
googlers386834032
pharmgkbrs386834032
gwascentralrs386834032
openSNPrs386834032
23andMers386834032
23andMe allrs386834032
SNP Nexus

SNPshotrs386834032
SNPdbers386834032
MSV3drs386834032
GWAS Ctlgrs386834032
Max Magnitude0
ClinVar
Risk rs386834032(G;G)
Alt rs386834032(G;G)
Reference rs386834032(C;C)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46660574G>C
CLNSRC ClinVar
CLNACC RCV000050015.1,


[PMID 17030669] POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.