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rs386834039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834039(C;T)
Make rs386834039(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46193874
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834039
ebirs386834039
HLIrs386834039
Exacrs386834039
Varsomers386834039
Maprs386834039
PheGenIrs386834039
hapmaprs386834039
1000 genomesrs386834039
hgdprs386834039
ensemblrs386834039
gopubmedrs386834039
geneviewrs386834039
scholarrs386834039
googlers386834039
pharmgkbrs386834039
gwascentralrs386834039
openSNPrs386834039
23andMers386834039
23andMe allrs386834039
SNP Nexus

SNPshotrs386834039
SNPdbers386834039
MSV3drs386834039
GWAS Ctlgrs386834039
Max Magnitude0
ClinVar
Risk rs386834039(T;T)
Alt rs386834039(T;T)
Reference rs386834039(C;C)
Significance Pathogenic
Disease Muscle eye brain disease not provided
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease not provided
Reversed 1
HGVS NC_000001.10:g.46659546G>A
CLNSRC HGMD
CLNACC RCV000050023.1, RCV000081807.4,


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


[PMID 22554691OA-icon.png] Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.