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rs386834029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834029(-;-)
Make rs386834029(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46195898
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834029
ebirs386834029
HLIrs386834029
Exacrs386834029
Varsomers386834029
Maprs386834029
PheGenIrs386834029
hapmaprs386834029
1000 genomesrs386834029
hgdprs386834029
ensemblrs386834029
gopubmedrs386834029
geneviewrs386834029
scholarrs386834029
googlers386834029
pharmgkbrs386834029
gwascentralrs386834029
openSNPrs386834029
23andMers386834029
23andMe allrs386834029
SNP Nexus

SNPshotrs386834029
SNPdbers386834029
MSV3drs386834029
GWAS Ctlgrs386834029
Max Magnitude0
ClinVar
Risk rs386834029(;)
Alt rs386834029(;)
Reference rs386834029(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.46661570delA
CLNSRC ClinVar
CLNACC RCV000050012.1,


[PMID 12588800] Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.