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rs587784321

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784321(C;T)
Make rs587784321(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46436069
GenePCNT
is asnp
is mentioned by
dbSNPrs587784321
ebirs587784321
HLIrs587784321
Exacrs587784321
Varsomers587784321
Maprs587784321
PheGenIrs587784321
hapmaprs587784321
1000 genomesrs587784321
hgdprs587784321
ensemblrs587784321
gopubmedrs587784321
geneviewrs587784321
scholarrs587784321
googlers587784321
pharmgkbrs587784321
gwascentralrs587784321
openSNPrs587784321
23andMers587784321
23andMe allrs587784321
SNP Nexus

SNPshotrs587784321
SNPdbers587784321
MSV3drs587784321
GWAS Ctlgrs587784321
Max Magnitude0
ClinVar
Risk rs587784321(T;T)
Alt rs587784321(T;T)
Reference rs587784321(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.47855982C>T
CLNSRC
CLNACC RCV000147233.1,