Have questions? Visit https://www.reddit.com/r/SNPedia

rs28942068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 2
(G;G) 3
ReferenceGRCh38 38.1/141
Chromosome1
Position46192159
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs28942068
ebirs28942068
HLIrs28942068
Exacrs28942068
Varsomers28942068
Maprs28942068
PheGenIrs28942068
hapmaprs28942068
1000 genomesrs28942068
hgdprs28942068
ensemblrs28942068
gopubmedrs28942068
geneviewrs28942068
scholarrs28942068
googlers28942068
pharmgkbrs28942068
gwascentralrs28942068
openSNPrs28942068
23andMers28942068
23andMe allrs28942068
SNP Nexus

SNPshotrs28942068
SNPdbers28942068
MSV3drs28942068
GWAS Ctlgrs28942068
Max Magnitude3
OMIM606822
DescMUSCLE-EYE-BRAIN DISEASE
Variant0005
Relatedalso
ClinVar
Risk rs28942068(G;G)
Alt rs28942068(G;G)
Reference rs28942068(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.46657831G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004197.3,