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rs193919336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193919336(A;A)
Make rs193919336(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46193873
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs193919336
ebirs193919336
HLIrs193919336
Exacrs193919336
Varsomers193919336
Maprs193919336
PheGenIrs193919336
hapmaprs193919336
1000 genomesrs193919336
hgdprs193919336
ensemblrs193919336
gopubmedrs193919336
geneviewrs193919336
scholarrs193919336
googlers193919336
pharmgkbrs193919336
gwascentralrs193919336
openSNPrs193919336
23andMers193919336
23andMe allrs193919336
SNP Nexus

SNPshotrs193919336
SNPdbers193919336
MSV3drs193919336
GWAS Ctlgrs193919336
Max Magnitude0
ClinVar
Risk rs193919336(A,C,T;A,C,T)
Alt rs193919336(A,C,T;A,C,T)
Reference rs193919336(G;G)
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.46659545C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004200.3, RCV000049989.1,


[PMID 15236414] POMGnT1 gene alterations in a family with neurological abnormalities.


[PMID 17559086] Molecular heterogeneity in fetal forms of type II lissencephaly.


[PMID 20215985OA-icon.png] Muscle-Eye-Brain disease.