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rs193919335

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193919335(A;A)
Make rs193919335(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46190473
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs193919335
ebirs193919335
HLIrs193919335
Exacrs193919335
Varsomers193919335
Maprs193919335
PheGenIrs193919335
hapmaprs193919335
1000 genomesrs193919335
hgdprs193919335
ensemblrs193919335
gopubmedrs193919335
geneviewrs193919335
scholarrs193919335
googlers193919335
pharmgkbrs193919335
gwascentralrs193919335
openSNPrs193919335
23andMers193919335
23andMe allrs193919335
SNP Nexus

SNPshotrs193919335
SNPdbers193919335
MSV3drs193919335
GWAS Ctlgrs193919335
Max Magnitude0
ClinVar
Risk rs193919335(A,T;A,T)
Alt rs193919335(A,T;A,T)
Reference rs193919335(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.46656145C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004195.3, RCV000169201.1,