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rs386834034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834034(C;T)
Make rs386834034(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194853
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834034
ebirs386834034
HLIrs386834034
Exacrs386834034
Varsomers386834034
Maprs386834034
PheGenIrs386834034
hapmaprs386834034
1000 genomesrs386834034
hgdprs386834034
ensemblrs386834034
gopubmedrs386834034
geneviewrs386834034
scholarrs386834034
googlers386834034
pharmgkbrs386834034
gwascentralrs386834034
openSNPrs386834034
23andMers386834034
23andMe allrs386834034
SNP Nexus

SNPshotrs386834034
SNPdbers386834034
MSV3drs386834034
GWAS Ctlgrs386834034
Max Magnitude0
ClinVar
Risk rs386834034(T;T)
Alt rs386834034(T;T)
Reference rs386834034(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.46660525G>A
CLNSRC ClinVar
CLNACC RCV000050017.1,


[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.