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rs587784302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAGCAGACTTT;GAGCAGACTTT) 0 common in clinvar
Make rs587784302(-;-)
Make rs587784302(-;CAGACTTTGAG)
Make rs587784302(CAGACTTTGAG;CAGACTTTGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46366958
GenePCNT
is asnp
is mentioned by
dbSNPrs587784302
dbSNP (old)rs587784302
ClinGenrs587784302
ebirs587784302
HLIrs587784302
Exacrs587784302
Gnomadrs587784302
Varsomers587784302
Maprs587784302
PheGenIrs587784302
Biobankrs587784302
1000 genomesrs587784302
hgdprs587784302
ensemblrs587784302
gopubmedrs587784302
geneviewrs587784302
scholarrs587784302
googlers587784302
pharmgkbrs587784302
gwascentralrs587784302
openSNPrs587784302
23andMers587784302
23andMe allrs587784302
SNP Nexus

SNPshotrs587784302
SNPdbers587784302
MSV3drs587784302
GWAS Ctlgrs587784302
Max Magnitude0
ClinVar
Risk rs587784302(-;-)
Alt rs587784302(-;-)
Reference Rs587784302(GAGCAGACTTT;GAGCAGACTTT)
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.47786873_47786883delCAGACTTTGAG
CLNSRC
CLNACC RCV000147105.2, RCV000296415.1,