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rs397509366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397509366(-;-)
Make rs397509366(-;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position46355577
GenePCNT
is asnp
is mentioned by
dbSNPrs397509366
ebirs397509366
HLIrs397509366
Exacrs397509366
Varsomers397509366
Maprs397509366
PheGenIrs397509366
hapmaprs397509366
1000 genomesrs397509366
hgdprs397509366
ensemblrs397509366
gopubmedrs397509366
geneviewrs397509366
scholarrs397509366
googlers397509366
pharmgkbrs397509366
gwascentralrs397509366
openSNPrs397509366
23andMers397509366
23andMe allrs397509366
SNP Nexus

SNPshotrs397509366
SNPdbers397509366
MSV3drs397509366
GWAS Ctlgrs397509366
Max Magnitude0
ClinVar
Risk rs397509366(;)
Alt rs397509366(;)
Reference rs397509366(A;A)
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.47775492delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004969.7,