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rs386834010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834010(A;A)
Make rs386834010(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194359
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834010
ebirs386834010
HLIrs386834010
Exacrs386834010
Varsomers386834010
Maprs386834010
PheGenIrs386834010
hapmaprs386834010
1000 genomesrs386834010
hgdprs386834010
ensemblrs386834010
gopubmedrs386834010
geneviewrs386834010
scholarrs386834010
googlers386834010
pharmgkbrs386834010
gwascentralrs386834010
openSNPrs386834010
23andMers386834010
23andMe allrs386834010
SNP Nexus

SNPshotrs386834010
SNPdbers386834010
MSV3drs386834010
GWAS Ctlgrs386834010
Max Magnitude0
ClinVar
Risk rs386834010(A;A)
Alt rs386834010(A;A)
Reference rs386834010(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.46660031C>T
CLNSRC ClinVar
CLNACC RCV000049988.1,


[PMID 15236414] POMGnT1 gene alterations in a family with neurological abnormalities.


[PMID 17559086] Molecular heterogeneity in fetal forms of type II lissencephaly.


[PMID 20215985OA-icon.png] Muscle-Eye-Brain disease.