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

rs386834020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834020(G;G)
Make rs386834020(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189852
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834020
ebirs386834020
HLIrs386834020
Exacrs386834020
Varsomers386834020
Maprs386834020
PheGenIrs386834020
hapmaprs386834020
1000 genomesrs386834020
hgdprs386834020
ensemblrs386834020
gopubmedrs386834020
geneviewrs386834020
scholarrs386834020
googlers386834020
pharmgkbrs386834020
gwascentralrs386834020
openSNPrs386834020
23andMers386834020
23andMe allrs386834020
SNP Nexus

SNPshotrs386834020
SNPdbers386834020
MSV3drs386834020
GWAS Ctlgrs386834020
Max Magnitude0
ClinVar
Risk rs386834020(G;G)
Alt rs386834020(G;G)
Reference rs386834020(T;T)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46655524A>C
CLNSRC ClinVar
CLNACC RCV000050001.1,


[PMID 17878207] Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.