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rs386834021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834021(-;-)
Make rs386834021(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189489
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834021
ebirs386834021
HLIrs386834021
Exacrs386834021
Varsomers386834021
Maprs386834021
PheGenIrs386834021
hapmaprs386834021
1000 genomesrs386834021
hgdprs386834021
ensemblrs386834021
gopubmedrs386834021
geneviewrs386834021
scholarrs386834021
googlers386834021
pharmgkbrs386834021
gwascentralrs386834021
openSNPrs386834021
23andMers386834021
23andMe allrs386834021
SNP Nexus

SNPshotrs386834021
SNPdbers386834021
MSV3drs386834021
GWAS Ctlgrs386834021
Max Magnitude0
ClinVar
Risk rs386834021(;)
Alt rs386834021(;)
Reference rs386834021(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.46655161delG
CLNSRC ClinVar
CLNACC RCV000050003.1,


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