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rs193919337

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193919337(C;T)
Make rs193919337(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46197018
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs193919337
ebirs193919337
HLIrs193919337
Exacrs193919337
Varsomers193919337
Maprs193919337
PheGenIrs193919337
hapmaprs193919337
1000 genomesrs193919337
hgdprs193919337
ensemblrs193919337
gopubmedrs193919337
geneviewrs193919337
scholarrs193919337
googlers193919337
pharmgkbrs193919337
gwascentralrs193919337
openSNPrs193919337
23andMers193919337
23andMe allrs193919337
SNP Nexus

SNPshotrs193919337
SNPdbers193919337
MSV3drs193919337
GWAS Ctlgrs193919337
Max Magnitude0
ClinVar
Risk rs193919337(T;T)
Alt rs193919337(T;T)
Reference rs193919337(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
Reversed 1
HGVS NC_000001.10:g.46662690G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004201.3,