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rs369195346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs369195346(G;T)
Make rs369195346(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position46411651
GenePCNT
is asnp
is mentioned by
dbSNPrs369195346
ebirs369195346
HLIrs369195346
Exacrs369195346
Varsomers369195346
Maprs369195346
PheGenIrs369195346
hapmaprs369195346
1000 genomesrs369195346
hgdprs369195346
ensemblrs369195346
gopubmedrs369195346
geneviewrs369195346
scholarrs369195346
googlers369195346
pharmgkbrs369195346
gwascentralrs369195346
openSNPrs369195346
23andMers369195346
23andMe allrs369195346
SNP Nexus

SNPshotrs369195346
SNPdbers369195346
MSV3drs369195346
GWAS Ctlgrs369195346
Max Magnitude0
ClinVar
Risk rs369195346(T;T)
Alt rs369195346(T;T)
Reference rs369195346(G;G)
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.47831565G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000147151.1,