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

rs587784320

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587784320(-;-)
Make rs587784320(-;T)
Make rs587784320(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46436020
GenePCNT
is asnp
is mentioned by
dbSNPrs587784320
ebirs587784320
HLIrs587784320
Exacrs587784320
Varsomers587784320
Maprs587784320
PheGenIrs587784320
hapmaprs587784320
1000 genomesrs587784320
hgdprs587784320
ensemblrs587784320
gopubmedrs587784320
geneviewrs587784320
scholarrs587784320
googlers587784320
pharmgkbrs587784320
gwascentralrs587784320
openSNPrs587784320
23andMers587784320
23andMe allrs587784320
SNP Nexus

SNPshotrs587784320
SNPdbers587784320
MSV3drs587784320
GWAS Ctlgrs587784320
Max Magnitude0
ClinVar
Risk rs587784320(T;T)
Alt rs587784320(T;T)
Reference rs587784320(;)
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.47855933dupT
CLNSRC
CLNACC RCV000147229.1,