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rs386834035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834035(A;A)
Make rs386834035(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194843
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834035
ebirs386834035
HLIrs386834035
Exacrs386834035
Varsomers386834035
Maprs386834035
PheGenIrs386834035
hapmaprs386834035
1000 genomesrs386834035
hgdprs386834035
ensemblrs386834035
gopubmedrs386834035
geneviewrs386834035
scholarrs386834035
googlers386834035
pharmgkbrs386834035
gwascentralrs386834035
openSNPrs386834035
23andMers386834035
23andMe allrs386834035
SNP Nexus

SNPshotrs386834035
SNPdbers386834035
MSV3drs386834035
GWAS Ctlgrs386834035
Max Magnitude0
ClinVar
Risk rs386834035(A;A)
Alt rs386834035(A;A)
Reference rs386834035(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46660515C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004206.3, RCV000050018.1,


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