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rs386834017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834017(-;-)
Make rs386834017(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189920
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834017
ebirs386834017
HLIrs386834017
Exacrs386834017
Varsomers386834017
Maprs386834017
PheGenIrs386834017
hapmaprs386834017
1000 genomesrs386834017
hgdprs386834017
ensemblrs386834017
gopubmedrs386834017
geneviewrs386834017
scholarrs386834017
googlers386834017
pharmgkbrs386834017
gwascentralrs386834017
openSNPrs386834017
23andMers386834017
23andMe allrs386834017
SNP Nexus

SNPshotrs386834017
SNPdbers386834017
MSV3drs386834017
GWAS Ctlgrs386834017
Max Magnitude0
ClinVar
Risk rs386834017(;)
Alt rs386834017(;)
Reference rs386834017(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46655592delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004196.3, RCV000049998.1,


[PMID 11709191] Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.