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rs387907299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907299(C;T)
Make rs387907299(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position43080099
GeneC3orf39
is asnp
is mentioned by
dbSNPrs387907299
ebirs387907299
HLIrs387907299
Exacrs387907299
Varsomers387907299
Maprs387907299
PheGenIrs387907299
hapmaprs387907299
1000 genomesrs387907299
hgdprs387907299
ensemblrs387907299
gopubmedrs387907299
geneviewrs387907299
scholarrs387907299
googlers387907299
pharmgkbrs387907299
gwascentralrs387907299
openSNPrs387907299
23andMers387907299
23andMe allrs387907299
SNP Nexus

SNPshotrs387907299
SNPdbers387907299
MSV3drs387907299
GWAS Ctlgrs387907299
Max Magnitude0
ClinVar
Risk rs387907299(T;T)
Alt rs387907299(T;T)
Reference rs387907299(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMGNT2
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Reversed 1
HGVS NC_000003.11:g.43121591G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030787.3,