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rs386834024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834024(A;A)
Make rs386834024(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189457
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834024
ebirs386834024
HLIrs386834024
Exacrs386834024
Varsomers386834024
Maprs386834024
PheGenIrs386834024
hapmaprs386834024
1000 genomesrs386834024
hgdprs386834024
ensemblrs386834024
gopubmedrs386834024
geneviewrs386834024
scholarrs386834024
googlers386834024
pharmgkbrs386834024
gwascentralrs386834024
openSNPrs386834024
23andMers386834024
23andMe allrs386834024
SNP Nexus

SNPshotrs386834024
SNPdbers386834024
MSV3drs386834024
GWAS Ctlgrs386834024
Max Magnitude0
ClinVar
Risk rs386834024(A,T;A,T)
Alt rs386834024(A,T;A,T)
Reference rs386834024(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.46655129C>A; NC_000001.10:g.46655129C>T
CLNSRC ClinVar
CLNACC RCV000050006.2, RCV000050005.1,


[PMID 15466003OA-icon.png] POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.


[PMID 19299310] Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.


[PMID 22554691OA-icon.png] Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.