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rs386834028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834028(-;-)
Make rs386834028(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position46196734
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834028
ebirs386834028
HLIrs386834028
Exacrs386834028
Varsomers386834028
Maprs386834028
PheGenIrs386834028
hapmaprs386834028
1000 genomesrs386834028
hgdprs386834028
ensemblrs386834028
gopubmedrs386834028
geneviewrs386834028
scholarrs386834028
googlers386834028
pharmgkbrs386834028
gwascentralrs386834028
openSNPrs386834028
23andMers386834028
23andMe allrs386834028
SNP Nexus

SNPshotrs386834028
SNPdbers386834028
MSV3drs386834028
GWAS Ctlgrs386834028
Max Magnitude0
ClinVar
Risk rs386834028(;)
Alt rs386834028(;)
Reference rs386834028(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.46662406delG
CLNSRC ClinVar
CLNACC RCV000050011.1,


[PMID 19299310] Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.


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