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rs587784319

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784319(-;-)
Make rs587784319(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46430115
GenePCNT
is asnp
is mentioned by
dbSNPrs587784319
ebirs587784319
HLIrs587784319
Exacrs587784319
Varsomers587784319
Maprs587784319
PheGenIrs587784319
hapmaprs587784319
1000 genomesrs587784319
hgdprs587784319
ensemblrs587784319
gopubmedrs587784319
geneviewrs587784319
scholarrs587784319
googlers587784319
pharmgkbrs587784319
gwascentralrs587784319
openSNPrs587784319
23andMers587784319
23andMe allrs587784319
SNP Nexus

SNPshotrs587784319
SNPdbers587784319
MSV3drs587784319
GWAS Ctlgrs587784319
Max Magnitude0
ClinVar
Risk rs587784319(;)
Alt rs587784319(;)
Reference rs587784319(T;T)
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.47850029delT
CLNSRC
CLNACC RCV000147209.1,