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rs386834013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834013(G;G)
Make rs386834013(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192402
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834013
ebirs386834013
HLIrs386834013
Exacrs386834013
Varsomers386834013
Maprs386834013
PheGenIrs386834013
hapmaprs386834013
1000 genomesrs386834013
hgdprs386834013
ensemblrs386834013
gopubmedrs386834013
geneviewrs386834013
scholarrs386834013
googlers386834013
pharmgkbrs386834013
gwascentralrs386834013
openSNPrs386834013
23andMers386834013
23andMe allrs386834013
SNP Nexus

SNPshotrs386834013
SNPdbers386834013
MSV3drs386834013
GWAS Ctlgrs386834013
Max Magnitude0
ClinVar
Risk rs386834013(G;G)
Alt rs386834013(G;G)
Reference rs386834013(T;T)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46658074A>C
CLNSRC ClinVar
CLNACC RCV000049992.1,


[PMID 21983716] [Clinical and mutation analysis of a Chinese family with muscle eye brain disease].