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rs181690344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs181690344(C;T)
Make rs181690344(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position46353115
GenePCNT
is asnp
is mentioned by
dbSNPrs181690344
ebirs181690344
HLIrs181690344
Exacrs181690344
Varsomers181690344
Maprs181690344
PheGenIrs181690344
hapmaprs181690344
1000 genomesrs181690344
hgdprs181690344
ensemblrs181690344
gopubmedrs181690344
geneviewrs181690344
scholarrs181690344
googlers181690344
pharmgkbrs181690344
gwascentralrs181690344
openSNPrs181690344
23andMers181690344
23andMe allrs181690344
SNP Nexus

SNPshotrs181690344
SNPdbers181690344
MSV3drs181690344
GWAS Ctlgrs181690344
Max Magnitude0
ClinVar
Risk rs181690344(T;T)
Alt rs181690344(T;T)
Reference rs181690344(C;C)
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.47773029C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000147089.1,