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rs587784312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTGGCAGCC;CCTGGCAGCC) 0 common in clinvar
(GCAGCCCCTG;GCAGCCCCTG) 0 common in clinvar
Make rs587784312(-;-)
Make rs587784312(-;CCTGGCAGCC)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46411800
GenePCNT
is asnp
is mentioned by
dbSNPrs587784312
dbSNP (old)rs587784312
ClinGenrs587784312
ebirs587784312
HLIrs587784312
Exacrs587784312
Gnomadrs587784312
Varsomers587784312
Maprs587784312
PheGenIrs587784312
Biobankrs587784312
1000 genomesrs587784312
hgdprs587784312
ensemblrs587784312
gopubmedrs587784312
geneviewrs587784312
scholarrs587784312
googlers587784312
pharmgkbrs587784312
gwascentralrs587784312
openSNPrs587784312
23andMers587784312
23andMe allrs587784312
SNP Nexus

SNPshotrs587784312
SNPdbers587784312
MSV3drs587784312
GWAS Ctlgrs587784312
Max Magnitude0
ClinVar
Risk rs587784312(-;-) Rs587784312(GCAGCCCCTG;GCAGCCCCTG)
Alt rs587784312(-;-) Rs587784312(GCAGCCCCTG;GCAGCCCCTG)
Reference Rs587784312(CCTGGCAGCC;CCTGGCAGCC)
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.47831714_47831723delCCTGGCAGCC
CLNSRC
CLNACC RCV000147153.1,