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

rs28940869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28940869(C;T)
Make rs28940869(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192397
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs28940869
ebirs28940869
HLIrs28940869
Exacrs28940869
Varsomers28940869
Maprs28940869
PheGenIrs28940869
hapmaprs28940869
1000 genomesrs28940869
hgdprs28940869
ensemblrs28940869
gopubmedrs28940869
geneviewrs28940869
scholarrs28940869
googlers28940869
pharmgkbrs28940869
gwascentralrs28940869
openSNPrs28940869
23andMers28940869
23andMe allrs28940869
SNP Nexus

SNPshotrs28940869
SNPdbers28940869
MSV3drs28940869
GWAS Ctlgrs28940869
Max Magnitude0
OMIM606822
DescMUSCLE-EYE-BRAIN DISEASE
Variant0007
Relatedalso


ClinVar
Risk rs28940869(T;T)
Alt rs28940869(T;T)
Reference rs28940869(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies not provided
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 not provided
Reversed 1
HGVS NC_000001.10:g.46658069G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004199.3, RCV000150001.2,