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rs386834038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834038(A;A)
Make rs386834038(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194269
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834038
ebirs386834038
HLIrs386834038
Exacrs386834038
Varsomers386834038
Maprs386834038
PheGenIrs386834038
hapmaprs386834038
1000 genomesrs386834038
hgdprs386834038
ensemblrs386834038
gopubmedrs386834038
geneviewrs386834038
scholarrs386834038
googlers386834038
pharmgkbrs386834038
gwascentralrs386834038
openSNPrs386834038
23andMers386834038
23andMe allrs386834038
SNP Nexus

SNPshotrs386834038
SNPdbers386834038
MSV3drs386834038
GWAS Ctlgrs386834038
Max Magnitude0
ClinVar
Risk rs386834038(A,T;A,T)
Alt rs386834038(A,T;A,T)
Reference rs386834038(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.46659941C>A; NC_000001.10:g.46659941C>T
CLNSRC ClinVar
CLNACC RCV000050022.1, RCV000050021.1,


[PMID 15466003OA-icon.png] POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.