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rs386834030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834030(A;C)
Make rs386834030(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position46195819
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834030
ebirs386834030
HLIrs386834030
Exacrs386834030
Varsomers386834030
Maprs386834030
PheGenIrs386834030
hapmaprs386834030
1000 genomesrs386834030
hgdprs386834030
ensemblrs386834030
gopubmedrs386834030
geneviewrs386834030
scholarrs386834030
googlers386834030
pharmgkbrs386834030
gwascentralrs386834030
openSNPrs386834030
23andMers386834030
23andMe allrs386834030
SNP Nexus

SNPshotrs386834030
SNPdbers386834030
MSV3drs386834030
GWAS Ctlgrs386834030
Max Magnitude0
ClinVar
Risk rs386834030(C,G;C,G)
Alt rs386834030(C,G;C,G)
Reference rs386834030(A;A)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46661491T>G
CLNSRC ClinVar
CLNACC RCV000050013.1,


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