Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779355

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779355(G;T)
Make rs587779355(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46326518
GenePCNT
is asnp
is mentioned by
dbSNPrs587779355
ebirs587779355
HLIrs587779355
Exacrs587779355
Varsomers587779355
Maprs587779355
PheGenIrs587779355
hapmaprs587779355
1000 genomesrs587779355
hgdprs587779355
ensemblrs587779355
gopubmedrs587779355
geneviewrs587779355
scholarrs587779355
googlers587779355
pharmgkbrs587779355
gwascentralrs587779355
openSNPrs587779355
23andMers587779355
23andMe allrs587779355
SNP Nexus

SNPshotrs587779355
SNPdbers587779355
MSV3drs587779355
GWAS Ctlgrs587779355
Max Magnitude0
ClinVar
Risk rs587779355(T;T)
Alt rs587779355(T;T)
Reference rs587779355(G;G)
Significance Pathogenic
Disease Microcephalic osteodysplastic primordial dwarfism type 2 not provided
Variation info
Gene PCNT
CLNDBN Microcephalic osteodysplastic primordial dwarfism type 2 not provided
Reversed 0
HGVS NC_000021.8:g.47746432G>T
CLNSRC VariO
CLNACC RCV000115045.1, RCV000171352.1,