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rs386834014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834014(C;C)
Make rs386834014(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192379
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834014
ebirs386834014
HLIrs386834014
Exacrs386834014
Varsomers386834014
Maprs386834014
PheGenIrs386834014
hapmaprs386834014
1000 genomesrs386834014
hgdprs386834014
ensemblrs386834014
gopubmedrs386834014
geneviewrs386834014
scholarrs386834014
googlers386834014
pharmgkbrs386834014
gwascentralrs386834014
openSNPrs386834014
23andMers386834014
23andMe allrs386834014
SNP Nexus

SNPshotrs386834014
SNPdbers386834014
MSV3drs386834014
GWAS Ctlgrs386834014
Max Magnitude0
ClinVar
Risk rs386834014(C;C)
Alt rs386834014(C;C)
Reference rs386834014(G;G)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46658051C>G
CLNSRC ClinVar
CLNACC RCV000049993.1,


[PMID 21727005] Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.