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rs387906928

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906928(G;T)
Make rs387906928(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46385979
GenePCNT
is asnp
is mentioned by
dbSNPrs387906928
ebirs387906928
HLIrs387906928
Exacrs387906928
Varsomers387906928
Maprs387906928
PheGenIrs387906928
hapmaprs387906928
1000 genomesrs387906928
hgdprs387906928
ensemblrs387906928
gopubmedrs387906928
geneviewrs387906928
scholarrs387906928
googlers387906928
pharmgkbrs387906928
gwascentralrs387906928
openSNPrs387906928
23andMers387906928
23andMe allrs387906928
SNP Nexus

SNPshotrs387906928
SNPdbers387906928
MSV3drs387906928
GWAS Ctlgrs387906928
Max Magnitude0
ClinVar
Risk rs387906928(A,T;A,T)
Alt rs387906928(A,T;A,T)
Reference rs387906928(G;G)
Significance Pathogenic
Disease Microcephalic osteodysplastic primordial dwarfism type 2
Variation info
Gene PCNT
CLNDBN Microcephalic osteodysplastic primordial dwarfism type 2
Reversed 0
HGVS NC_000021.8:g.47805894G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023500.4,