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rs386834015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGGG;CTGGG) 0 common in clinvar
Make rs386834015(-;-)
Make rs386834015(-;CTGGG)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192367
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834015
ebirs386834015
HLIrs386834015
Exacrs386834015
Varsomers386834015
Maprs386834015
PheGenIrs386834015
hapmaprs386834015
1000 genomesrs386834015
hgdprs386834015
ensemblrs386834015
gopubmedrs386834015
geneviewrs386834015
scholarrs386834015
googlers386834015
pharmgkbrs386834015
gwascentralrs386834015
openSNPrs386834015
23andMers386834015
23andMe allrs386834015
SNP Nexus

SNPshotrs386834015
SNPdbers386834015
MSV3drs386834015
GWAS Ctlgrs386834015
Max Magnitude0
ClinVar
Risk rs386834015(;)
Alt rs386834015(;)
Reference rs386834015(CTGGG;CTGGG)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46658039_46658043delCCCAG
CLNSRC ClinVar
CLNACC RCV000049994.1,


[PMID 17906881] Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.