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

rs119479062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119479062(C;T)
Make rs119479062(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46411840
GenePCNT
is asnp
is mentioned by
dbSNPrs119479062
ebirs119479062
HLIrs119479062
Exacrs119479062
Varsomers119479062
Maprs119479062
PheGenIrs119479062
hapmaprs119479062
1000 genomesrs119479062
hgdprs119479062
ensemblrs119479062
gopubmedrs119479062
geneviewrs119479062
scholarrs119479062
googlers119479062
pharmgkbrs119479062
gwascentralrs119479062
openSNPrs119479062
23andMers119479062
23andMe allrs119479062
SNP Nexus

SNPshotrs119479062
SNPdbers119479062
MSV3drs119479062
GWAS Ctlgrs119479062
Max Magnitude0
OMIM605925
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119479062(T;T)
Alt rs119479062(T;T)
Reference rs119479062(C;C)
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.47831754C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004971.4,