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rs587784308

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784308(G;T)
Make rs587784308(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46402388
GenePCNT
is asnp
is mentioned by
dbSNPrs587784308
ebirs587784308
HLIrs587784308
Exacrs587784308
Varsomers587784308
Maprs587784308
PheGenIrs587784308
hapmaprs587784308
1000 genomesrs587784308
hgdprs587784308
ensemblrs587784308
gopubmedrs587784308
geneviewrs587784308
scholarrs587784308
googlers587784308
pharmgkbrs587784308
gwascentralrs587784308
openSNPrs587784308
23andMers587784308
23andMe allrs587784308
SNP Nexus

SNPshotrs587784308
SNPdbers587784308
MSV3drs587784308
GWAS Ctlgrs587784308
Max Magnitude0
ClinVar
Risk rs587784308(T;T)
Alt rs587784308(T;T)
Reference rs587784308(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.47822302G>T
CLNSRC
CLNACC RCV000147141.1,