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rs397514033

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397514033(-;-)
Make rs397514033(-;T)
Make rs397514033(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46388845
GenePCNT
is asnp
is mentioned by
dbSNPrs397514033
ebirs397514033
HLIrs397514033
Exacrs397514033
Varsomers397514033
Maprs397514033
PheGenIrs397514033
hapmaprs397514033
1000 genomesrs397514033
hgdprs397514033
ensemblrs397514033
gopubmedrs397514033
geneviewrs397514033
scholarrs397514033
googlers397514033
pharmgkbrs397514033
gwascentralrs397514033
openSNPrs397514033
23andMers397514033
23andMe allrs397514033
SNP Nexus

SNPshotrs397514033
SNPdbers397514033
MSV3drs397514033
GWAS Ctlgrs397514033
Max Magnitude0
ClinVar
Risk rs397514033(T;T)
Alt rs397514033(T;T)
Reference rs397514033(;)
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.47808760dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004970.6,