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rs387907300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907300(A;A)
Make rs387907300(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position43080959
GeneC3orf39
is asnp
is mentioned by
dbSNPrs387907300
ebirs387907300
HLIrs387907300
Exacrs387907300
Varsomers387907300
Maprs387907300
PheGenIrs387907300
hapmaprs387907300
1000 genomesrs387907300
hgdprs387907300
ensemblrs387907300
gopubmedrs387907300
geneviewrs387907300
scholarrs387907300
googlers387907300
pharmgkbrs387907300
gwascentralrs387907300
openSNPrs387907300
23andMers387907300
23andMe allrs387907300
SNP Nexus

SNPshotrs387907300
SNPdbers387907300
MSV3drs387907300
GWAS Ctlgrs387907300
Max Magnitude0
ClinVar
Risk rs387907300(A;A)
Alt rs387907300(A;A)
Reference rs387907300(G;G)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) Neonatal death Severe hydrocephalus
Variation info
Gene POMGNT2
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 Neonatal death Severe hydrocephalus
Reversed 1
HGVS NC_000003.11:g.43122451C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030788.4, RCV000162139.1,