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rs386834036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834036(A;A)
Make rs386834036(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194637
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834036
ebirs386834036
HLIrs386834036
Exacrs386834036
Varsomers386834036
Maprs386834036
PheGenIrs386834036
hapmaprs386834036
1000 genomesrs386834036
hgdprs386834036
ensemblrs386834036
gopubmedrs386834036
geneviewrs386834036
scholarrs386834036
googlers386834036
pharmgkbrs386834036
gwascentralrs386834036
openSNPrs386834036
23andMers386834036
23andMe allrs386834036
SNP Nexus

SNPshotrs386834036
SNPdbers386834036
MSV3drs386834036
GWAS Ctlgrs386834036
Max Magnitude0
ClinVar
Risk rs386834036(A;A)
Alt rs386834036(A;A)
Reference rs386834036(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.46660309C>T
CLNSRC ClinVar
CLNACC RCV000050019.1,


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