Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834025(C;C)
Make rs386834025(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189358
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834025
ebirs386834025
HLIrs386834025
Exacrs386834025
Varsomers386834025
Maprs386834025
PheGenIrs386834025
hapmaprs386834025
1000 genomesrs386834025
hgdprs386834025
ensemblrs386834025
gopubmedrs386834025
geneviewrs386834025
scholarrs386834025
googlers386834025
pharmgkbrs386834025
gwascentralrs386834025
openSNPrs386834025
23andMers386834025
23andMe allrs386834025
SNP Nexus

SNPshotrs386834025
SNPdbers386834025
MSV3drs386834025
GWAS Ctlgrs386834025
Max Magnitude0
ClinVar
Risk rs386834025(C;C)
Alt rs386834025(C;C)
Reference rs386834025(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.46655030C>G
CLNSRC ClinVar
CLNACC RCV000050008.1,


[PMID 21983716] [Clinical and mutation analysis of a Chinese family with muscle eye brain disease].