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rs386834037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834037(A;A)
Make rs386834037(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194347
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834037
ebirs386834037
HLIrs386834037
Exacrs386834037
Varsomers386834037
Maprs386834037
PheGenIrs386834037
hapmaprs386834037
1000 genomesrs386834037
hgdprs386834037
ensemblrs386834037
gopubmedrs386834037
geneviewrs386834037
scholarrs386834037
googlers386834037
pharmgkbrs386834037
gwascentralrs386834037
openSNPrs386834037
23andMers386834037
23andMe allrs386834037
SNP Nexus

SNPshotrs386834037
SNPdbers386834037
MSV3drs386834037
GWAS Ctlgrs386834037
Max Magnitude0
ClinVar
Risk rs386834037(A;A)
Alt rs386834037(A;A)
Reference rs386834037(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.46660019C>T
CLNSRC ClinVar
CLNACC RCV000050020.1,


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